KIT K550_K558del

CI-VAR-00002136Explore in graph →NP_000213.1:p.Lys550_Lys558delNM_000222.2:c.1648_1674del27ClinVar 13857 CIViC 949 rs121913234

Curated evidence

Evidence by cancer (3 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 1–3 of 3 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 Tumor3
KIT K550_K558del	Imatinib	Predictive	D	Supports Sensitivity Response	—	submitted	EID2398 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 K550_K558del	Sunitinib	Predictive	C	Supports Resistance	2	accepted	EID4062 Patient 3 from a larger cohort of genotyped patients (n= 78) with imatinib resistant or intolerant gastrointestinal stromal tumors (GISTs) harbored a primary (pre-imatinib treatment) KIT K550_K558 del… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC	civic
KIT K550_K558del

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
13857	Pathogenic	no assertion criteria provided	0	Gastrointestinal stromal tumor	somatic	1	Jun 16, 2005	clinvar