KIT V559A

CI-VAR-00004546Explore in graph →NP_000213.1:p.Val559AlaNM_000222.2:c.1676T>CClinVar 13865 CIViC 969 rs121913517

Curated evidence

Evidence by cancer (1 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 1–1 of 1 evidence items across 1 cancer context 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 Tumor1
KIT V559A	Imatinib	Predictive	D	Supports Sensitivity Response	—	submitted	EID2455 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

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
13865	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Gastrointestinal stromal tumor, familial; Cutaneous mastocytosis; Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor; Germinoma	germline/somatic	5	Nov 07, 2024	clinvar