Variant · Snv

CSF3R T618I

CI-VAR-00004332Explore in graph →NP_724781.1:p.Thr618IleNM_156039.3:c.1853C>TClinVar 208339 CIViC 2387 rs796065343

Curated evidence

Evidence by cancer (3 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 1–3 of 3 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
Acute Myeloid Leukemia1
CSF3R T618I	(prognostic)	Prognostic	B	Supports Poor Outcome	4	submitted	EID9072 Tarlock et al. (2020) report the incidence of CSF3R mutations in a large cohort of pediatric AML; CSF3R mutations almost always cooccured mutually exclusively with either CEBPA variants or t(8;21). Th… (full text at CIViC) PMID 32187354 · Tarlock et al., 2020 · Open in CIViC	civic
Chronic Neutrophilic Leukemia2
CSF3R T618I	Ruxolitinib	Predictive	C	Supports Sensitivity Response	4	accepted	EID6381 Case report of a patient treated with ruxolitinib, an FDA-approved JAK1/2 inhibitor, which resulted in dramatic improvement of his blood counts. He also had significant reduction of spleen volume and … (full text at CIViC) PMID 25180155 ·

ClinVar

Clinical significance (1)

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

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
208339	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Early T cell progenitor acute lymphoblastic leukemia; Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; Neoplasm; Hereditary neutrophilia	germline/somatic	5	Oct 31, 2025	clinvar