KIT D816Y

CI-VAR-00000562Explore in graph →NP_000213.1:p.Asp816TyrNM_000222.2:c.2446G>TClinVar 13860 CIViC 984 rs121913506

Curated evidence

Evidence by cancer (5 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 1–5 of 5 evidence items across 3 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
Gastrointestinal Stromal Tumor2
KIT D816Y	Ponatinib + Regorafenib + SunitinibSubstitutes	Predictive	D	Supports Resistance	2	submitted	EID4156 In an in vitro study, a Ba/F3 cell line expressing KIT 557-558del primary mutation (known to confer sensitivity to regorafenib) was incubated in various concentrations of ponatinib, sunitinib, or rego… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic
KIT D816Y	Sunitinib	Predictive	D	Supports Resistance	—	submitted	EID4155 In an in vitro study, a 32D cell line expressing KIT D816Y mutation (overexpression) demonstrated reduced sensitivity to sunitinib treatment (IC50: 73.1nM) compared to 32D cells expressing wild-type K… (full text at CIViC) PMID 24205792 ·

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
13860	Uncertain significance	criteria provided, single submitter	1	Acute myeloid leukemia; MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC; Gastrointestinal stromal tumor	germline/somatic	2	Aug 08, 2025	clinvar

Systemic Mastocytosis2
NOT KIT D816V AND ( KIT V560G OR KIT D816Y OR KIT D816F )	Imatinib Mesylate	Predictive	B	Supports Sensitivity Response	3	submitted	EID11163 In this phase IV clinical trial, ten patients with systemic mastocystosis (SM) were recruited to test efficacy and safety of imatinib. Nine patients fulfilled criteria for well-differentiated SM (WDSM… (full text at CIViC) PMID 28978170 · Alvarez-Twose et al., 2017 · Open in CIViC	civic
NOT KIT D816V AND ( KIT V560G OR KIT D816Y OR KIT D816F )	Imatinib Mesylate	Predictive	D	Supports Sensitivity Response	3	submitted	EID11162 In this preclinical study, two subclones of human mast cell leukemia line were used to investigate cellular response to KIT inhibitor STI571. HMC1.1 cell line expressing only the KIT V560G mutation an… (full text at CIViC) PMID 11861291 · Ma et al., 2002 · Open in CIViC	civic

Unmapped disease1unmapped disease
NOT KIT D816V AND ( KIT V560G OR KIT D816Y OR KIT D816F )	(functional)	Functional	D	Supports Gain Of Function	2	submitted	EID11161 In this preclinical study, two subclones of human mast cell leukemia line were used to investigate cellular response to KIT inhibitor STI571. HMC1.1 cell line expressing only the KIT V560G mutation an… (full text at CIViC) PMID 11861291 · Ma et al., 2002 · Open in CIViC	civic