DDX41 G530D

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Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Acute Myeloid Leukemia5
DDX41 G530D	(predisposing)	Predisposing	B	Supports Predisposition	4	submitted	EID10339 DDX41 p.G530D (NM_016222.2) was detected in the germline of 5 family members. Family H's pedigree can be seen in Fig. 1H - which includes: 1) III.6 (proband) was diagnosed with AML at 50 (CBC paramete… (full text at CIViC) PMID 26712909 · Lewinsohn et al., 2016 · Open in CIViC	civic
DDX41 G530D	(oncogenic)	Oncogenic	B	Supports Oncogenicity	3	rejected	EID10340 Samples CN-AML-16-T/CN-AML-NR-16-Dx and CN-AML-33-T/CN-AML-NR-33-Dx are included in COSMIC Genomic Mutation ID: COSV57250947 (https://cancer.sanger.ac.uk/cosmic/mutation/overview?id=144210066) but sou… (full text at CIViC) PMID 30371878 · Tate et al., 2019 · Open in CIViC	civic

Molecular profile

Therapy

Type

Level

Direction · significance

Rating (1–5)

Status

Evidence

Source

Acute Myeloid Leukemia5

DDX41 G530D

(predisposing)

Predisposing

Supports Predisposition

submitted

EID10339

DDX41 p.G530D (NM_016222.2) was detected in the germline of 5 family members. Family H's pedigree can be seen in Fig. 1H - which includes: 1) III.6 (proband) was diagnosed with AML at 50 (CBC paramete… (full text at CIViC)

PMID 26712909 · Lewinsohn et al., 2016 · Open in CIViC

civic

DDX41 G530D

(oncogenic)

Oncogenic

Supports Oncogenicity

rejected

EID10340

Samples CN-AML-16-T/CN-AML-NR-16-Dx and CN-AML-33-T/CN-AML-NR-33-Dx are included in COSMIC Genomic Mutation ID: COSV57250947 (https://cancer.sanger.ac.uk/cosmic/mutation/overview?id=144210066) but sou… (full text at CIViC)

PMID 30371878 · Tate et al., 2019 · Open in CIViC

civic

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
2500222	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	DDX41-related hematologic malignancy predisposition syndrome; Inborn genetic diseases	germline	4	Jan 20, 2026	clinvar

Variation

Clinical significance

Review status

Stars

Conditions

Origin

Submitters

Last evaluated

Source

2500222

Uncertain significance

criteria provided, multiple submitters, no conflicts

DDX41-related hematologic malignancy predisposition syndrome; Inborn genetic diseases

germline

Jan 20, 2026

clinvar

Myelodysplastic Syndrome3
DDX41 G530D	(oncogenic)	Oncogenic	B	Supports Oncogenicity	3	rejected	EID10341 There is a patient with an acquired G530D variant in a familial MDS tumor that is due to an unspecified, novel germline DDX41 alteration. Other occurrences mentioned in this article are cited in othe… (full text at CIViC) PMID 28547672 · Cheah et al., 2017 · Open in CIViC	civic
DDX41 G530D	(diagnostic)	Diagnostic	B	Supports Positive	4	submitted	EID10646 7 patients in cBIoPortal.org that are from the Papaemmanuil Lab 2022. Each patient had a diagnosis of MDS that had G530D at a VAF between 4-15%. The VAF and the fact that each of the 7 patients had … (full text at CIViC) PMID 22588877 · Cerami et al., 2012 · Open in CIViC	civic
DDX41 G530D	(oncogenic)	Oncogenic	C	Supports Oncogenicity	4	submitted	EID12951 In a functional study investigating the role of DDX41 in erythropoiesis and myeloid neoplasms, DDX41 p.G530D was identified in a patient with myelodysplastic syndrome (MDS) who also carried a somatic … (full text at CIViC) PMID 40764304 · Bi et al., 2025 · Open in CIViC	civic

Myelodysplastic Syndrome3

DDX41 G530D

(oncogenic)

Oncogenic

Supports Oncogenicity

rejected

EID10341

There is a patient with an acquired G530D variant in a familial MDS tumor that is due to an unspecified, novel germline DDX41 alteration. Other occurrences mentioned in this article are cited in othe… (full text at CIViC)

PMID 28547672 · Cheah et al., 2017 · Open in CIViC

civic

DDX41 G530D

(diagnostic)

Diagnostic

Supports Positive

submitted

EID10646

7 patients in cBIoPortal.org that are from the Papaemmanuil Lab 2022. Each patient had a diagnosis of MDS that had G530D at a VAF between 4-15%. The VAF and the fact that each of the 7 patients had … (full text at CIViC)

PMID 22588877 · Cerami et al., 2012 · Open in CIViC

civic

DDX41 G530D

(oncogenic)

Oncogenic

Supports Oncogenicity

submitted

EID12951

In a functional study investigating the role of DDX41 in erythropoiesis and myeloid neoplasms, DDX41 p.G530D was identified in a patient with myelodysplastic syndrome (MDS) who also carried a somatic … (full text at CIViC)

PMID 40764304 · Bi et al., 2025 · Open in CIViC

civic

Myeloid Neoplasm7
DDX41 G530D	(oncogenic)	Oncogenic	B	Supports Oncogenicity	3	submitted	EID10347 Patient with an unspecified myeloid neoplasm had DDX41 c.232_233insAA/p.P78Qfs*3 (VAF=47%) and DDX41 c.1589G>A/p.G530D (VAF=5%), as well as SRSF2 c.284C>A/p.P95H (VAF=4%); germline/somatic origin coul… (full text at CIViC) PMID 32512379 · Aguilera-Diaz et al., 2020 · Open in CIViC	civic
DDX41 G530D	(oncogenic)	Oncogenic	B	Supports Oncogenicity	1	rejected	EID10348 Review paper that summarizes 6 cases of somatic G530D and 1 family of germline G530D from other primary literature. PMID 34349893 · Wan et al., 2021 · Open in CIViC	civic
DDX41 G530D	(oncogenic)	Oncogenic	B	Supports Oncogenicity	3	submitted	EID11433 The G530D variant (assumed somatic based on VAFs between 9-22%) was identified in 5 AML patients from the Clinical Trial cohort and presumed germline variants included 2 with p.D140fs, p.E268fs, c.109… (full text at CIViC) PMID 35443031 · Duployez et al., 2022 · Open in CIViC	civic
DDX41 G530D	(oncogenic)	Oncogenic	B	Supports Oncogenicity	3	submitted	EID11434 The G530D variant was identified in 7 patients with AML (one also had DLBCL), 2 patients with MDS, and 1 patient with pancytopenia (VAFs between 2.0-35.3%); presumed germline variants included none in… (full text at CIViC) PMID 35671390 · Li et al., 2022 · Open in CIViC	civic
DDX41 G530D	(oncogenic)	Oncogenic	B	Supports Oncogenicity	5	submitted	EID11435 The G530D variant was identified in 8 patients with myeloid neoplasm who had somatic status confirmed by buccal swab or sorted T-cells; germline variants included none in 3 patients (one of whom had a… (full text at CIViC) PMID 36322930 · Makishima et al., 2023 · Open in CIViC	civic
DDX41 G530D	(oncogenic)	Oncogenic	C	Supports Oncogenicity	1	submitted	EID10344 This study profiled DDX41 variants in 1529 patients with myeloid neoplasms, including MDS, AML, MPN, and MDS/MPN, using targeted next-generation sequencing of 114 hematologic malignancy-associated gen… (full text at CIViC) PMID 32307695 · Qu et al., 2021 · Open in CIViC	civic
DDX41 G530D	(oncogenic)	Oncogenic	C	Supports Oncogenicity	5	submitted	EID10345 Three patients in this French study acquired DDX41 G530D in their myeloid neoplasm. 1. 59yo French male (Patient #9) with aplastic anemia (bone marrow dysplasia and 2% BM blasts) that evolved into cyt… (full text at CIViC) PMID 31484648 · Sébert et al., 2019 · Open in CIViC	civic

Myeloid Neoplasm7

DDX41 G530D

(oncogenic)

Oncogenic

Supports Oncogenicity

submitted

EID10347

Patient with an unspecified myeloid neoplasm had DDX41 c.232_233insAA/p.P78Qfs*3 (VAF=47%) and DDX41 c.1589G>A/p.G530D (VAF=5%), as well as SRSF2 c.284C>A/p.P95H (VAF=4%); germline/somatic origin coul… (full text at CIViC)

PMID 32512379 · Aguilera-Diaz et al., 2020 · Open in CIViC

civic

DDX41 G530D

(oncogenic)

Oncogenic

Supports Oncogenicity

rejected

EID10348

Review paper that summarizes 6 cases of somatic G530D and 1 family of germline G530D from other primary literature.

PMID 34349893 · Wan et al., 2021 · Open in CIViC

civic

DDX41 G530D

(oncogenic)

Oncogenic

Supports Oncogenicity

submitted

EID11433

The G530D variant (assumed somatic based on VAFs between 9-22%) was identified in 5 AML patients from the Clinical Trial cohort and presumed germline variants included 2 with p.D140fs, p.E268fs, c.109… (full text at CIViC)

PMID 35443031 · Duployez et al., 2022 · Open in CIViC

civic

DDX41 G530D

(oncogenic)

Oncogenic

Supports Oncogenicity

submitted

EID11434

The G530D variant was identified in 7 patients with AML (one also had DLBCL), 2 patients with MDS, and 1 patient with pancytopenia (VAFs between 2.0-35.3%); presumed germline variants included none in… (full text at CIViC)

PMID 35671390 · Li et al., 2022 · Open in CIViC

civic

DDX41 G530D

(oncogenic)

Oncogenic

Supports Oncogenicity

submitted

EID11435

The G530D variant was identified in 8 patients with myeloid neoplasm who had somatic status confirmed by buccal swab or sorted T-cells; germline variants included none in 3 patients (one of whom had a… (full text at CIViC)

PMID 36322930 · Makishima et al., 2023 · Open in CIViC

civic

DDX41 G530D

(oncogenic)

Oncogenic

Supports Oncogenicity

submitted

EID10344

This study profiled DDX41 variants in 1529 patients with myeloid neoplasms, including MDS, AML, MPN, and MDS/MPN, using targeted next-generation sequencing of 114 hematologic malignancy-associated gen… (full text at CIViC)

PMID 32307695 · Qu et al., 2021 · Open in CIViC

civic

DDX41 G530D

(oncogenic)

Oncogenic

Supports Oncogenicity

submitted

EID10345

Three patients in this French study acquired DDX41 G530D in their myeloid neoplasm. 1. 59yo French male (Patient #9) with aplastic anemia (bone marrow dysplasia and 2% BM blasts) that evolved into cyt… (full text at CIViC)

PMID 31484648 · Sébert et al., 2019 · Open in CIViC

civic

Evidence by cancer (15 items)

Clinical significance (1)