NF1 D1644H

CI-VAR-00000427Explore in graph →CIViC 5092

Curated evidence

Evidence by cancer (2 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–2 of 2 evidence items across 2 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Diffuse Astrocytoma1
NF1 D1644H AND NF1 Q1189*	Selumetinib	Predictive	C	Supports Sensitivity Response	1	submitted	EID12342 A 14.6-year-old male [ID: 6] with a family history of neurofibromatosis type 1 (NF1) affecting both parents and a sibling. The patient was asymptomatic at diagnosis, and a biopsy of the left frontal g… (full text at CIViC) PMID 35945463 · Lucas et al., 2022 · Open in CIViC	civic
Neurofibromatosis1unmapped disease
NF1 D1644H	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID12275 This study reported 47 neurofibromatosis type 1 (NF1) patients with biallelic inactivation of NF1 genes were detected in all glial tumors. Targeted capture-based next-generation sequencing (479 cancer… (full text at CIViC) PMID ·

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.