KIT V559D

CI-VAR-00004547Explore in graph →NP_000213.1:p.Val559AspNM_000222.2:c.1676T>AClinVar 13856 CIViC 968 rs121913517

Curated evidence

Evidence by cancer (11 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 1–11 of 11 evidence items across 4 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 Tumor8
KIT V559D	CHMFL-KIT-031	Predictive	D	Supports Sensitivity Response	3	submitted	EID7870 A novel compound identified in a high-throughput screen is highly selective for KIT V559D in cell lines and mice models. In mice, there was a dose-dependent reduction in tumor size. PMID 29340041 · Yu et al., 2017 · Open in CIViC	civic
KIT V559D	Dasatinib + Imatinib + Nilotinib + SorafenibSubstitutes	Predictive	D	Supports Sensitivity Response	4	submitted	EID3033 dasatinib inhibited cell growth of imatinib-sensitive KIT V559D with an IC50 of 27 nmol/L, whereas imatinib, nilotinib, and sorafenib had an IC50 of 63, 44, and 66 nmol/L, respectively. PMID 17699867 · Guo et al., 2007 ·

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
13856	Pathogenic	no assertion criteria provided	0	Gastrointestinal stromal tumor; Germinoma	somatic	3	Jan 23, 1998	clinvar

Malignant Neoplasm1
KIT V559D	Dasatinib + Imatinib + PD-180970 + Sunitinib + TandutinibSubstitutes	Predictive	D	Supports Sensitivity Response	2	accepted	EID3029 KIT(V559D) were expressed in HEK-293 cells (in vitro). Imatinib, BMS-354825 (dasatinib), PD-180970, MLN-518 (tandutinib), and SU-11248 bind variant V559D with high affinity (Kd =< 20 nM), and inhibit … (full text at CIViC) PMID 16046538 · Carter et al., 2005 · Open in CIViC	civic

Melanoma1
KIT V559D	Dasatinib	Predictive	D	Supports Sensitivity Response	—	submitted	EID4107 In an in vitro study, Ba/F3 cells expressing KIT V559D mutation were found to have increased sensitivity to dasatinib (IC50: 22 nM). Sensitivity was determined by assessing cell proliferation, apopto… (full text at CIViC) PMID 17372901 · Antonescu et al., 2007 · Open in CIViC	civic

Solid Neoplasm1
KIT V559D	Dasatinib	Predictive	D	Supports Sensitivity Response	—	rejected	EID4114 In an in vitro study of gastrointestinal tumors, HEK-293 cells expressing KIT V559D mutation were found to have sensitivity to dasatinib treatment. (IC50: 8nM). Sensitivity was determined by assessin… (full text at CIViC) PMID 16046538 · Carter et al., 2005 · Open in CIViC	civic