KIT V654A

CI-VAR-00004598Explore in graph →NP_000213.1:p.Val654AlaNM_000222.2:c.1961T>CClinVar 375921 CIViC 73 rs121913523

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 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
Chronic Myeloid Leukemia, BCR-ABL1 Positive2
KIT V654A	Bosutinib	Predictive	D	Supports Sensitivity Response	—	submitted	EID4149 In an in vitro study, the recombinant KIT V654A mutation was associated with increased sensitivity to bosutinib treatment (IC50:132 nM), as compared to wild-type KIT kinase (IC50: 6313 nM). Sensitivi… (full text at CIViC) PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC	civic
KIT V654A	Dasatinib	Predictive	D	Supports Sensitivity Response	—	submitted	EID4150 In an in vitro study, the recombinant KIT V654A mutation was associated with increased sensitivity to dasatinib treatment (IC50: 4.2nM vs, 93.0nM), as compared to wild-type KIT kinase. Sensitivity was… (full text at CIViC) PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC

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
375921	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome; Germinoma	germline/somatic	3	Oct 19, 2024	clinvar

Gastrointestinal Stromal Tumor3
KIT V654A	Imatinib	Predictive	D	Supports Resistance	3	accepted	EID249 KIT V654A results in imatinib resistance in GIST patient-derived cell lines. PMID 16954519 · Heinrich et al., 2006 · Open in CIViC	civic
KIT V654A	Regorafenib	Predictive	D	Supports Resistance	4	submitted	EID4148 In an in vitro study, Ba/F3 cell lines expressing different KIT primary mutations (known to confer sensitivity to regorafenib) and KIT V654A secondary mutation, KIT V654A was associated with decreased… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic
KIT V654A	Sunitinib	Predictive	B	Supports Sensitivity Response	3	accepted	EID304 In GIST tumor cells and patients harboring KIT V654A mutation, SU11248 is effective for those that are refractory to imatinib. PMID 16638875 · Prenen et al., 2006 · Open in CIViC	civic