KIT V560D

CI-VAR-00004551Explore in graph →NP_000213.1:p.Val560AspNM_000222.2:c.1679T>AClinVar 375914 CIViC 971 rs121913521

Curated evidence

Evidence by cancer (7 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 1–7 of 7 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
Gastrointestinal Stromal Tumor5
KIT V560D	Imatinib	Predictive	D	Supports Sensitivity Response	—	submitted	EID2464 Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib. PMID 21364689 · Pierotti et al., 2011 · Open in CIViC	civic
KIT V560D	Imatinib + Ponatinib + Regorafenib + SunitinibSubstitutes	Predictive	D	Supports Sensitivity Response	3	accepted	EID4127 In an in vitro study, an IL3 independent Ba/F3 cell line expressing KIT V560D primary activating mutation demonstrated sensitivity to imatinib (IC50: 3nmol/L), sunitinib (IC50: 2nmol/L), regorafenib (… (full text at CIViC) PMID 25239608 ·

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
375914	Likely pathogenic	criteria provided, single submitter	1	Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome	germline/somatic	2	Feb 23, 2024	clinvar

Malignant Neoplasm2
KIT V560D	Imatinib Mesylate	Predictive	D	Supports Sensitivity Response	2	accepted	EID5348 In an in vitro study, Chinese hamster ovary cells expressing KIT V560D mutation demonstrated sensitivity to imatinib treatment (IC50 = 100 vs IC50 = 1000) when compared to Chinese hamster ovary cells … (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC	civic
KIT V560D	Sunitinib	Predictive	D	Does Not Support Resistance	2	accepted	EID4077 In an in vitro study, Chinese hamster ovary cells expressing KIT V560D demonstrated comparable sensitivity to sunitinib treatment compared to cells expressing ligand activated wild-type KIT (IC50<100 … (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC	civic