KIT W557_K558del

CI-VAR-00004701Explore in graph →ClinVar 222957 CIViC 961 rs869025568

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 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 Tumor10
KIT W557_K558del	Imatinib	Predictive	D	Supports Sensitivity Response	—	submitted	EID2434 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 W557_K558del	Imatinib + PonatinibSubstitutes	Predictive	D	Supports Sensitivity Response	3	accepted	EID4084 In an in vitro study, an IL3 independent Ba/F3 cell line expressing KIT W557_K558del primary activating mutation demonstrated sensitivity to imatinib (IC50: 27nmol/L) and ponatinib (IC50: 3nmol/L) tre… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · 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
222957	Likely pathogenic	criteria provided, single submitter	1	Gastrointestinal stromal tumor	somatic	2	Feb 25, 2016	clinvar

Malignant Neoplasm1
KIT W557_K558del	Imatinib	Predictive	D	Does Not Support Resistance	2	accepted	EID2481 In an in vitro study of imatinib sensitivity, KIT W557_K558del was cloned into a plasmid by site-directed mutagenesis of KIT WT cDNA. Chinese hamster ovary cells were transiently transfected with the … (full text at CIViC) PMID 14645423 · Heinrich et al., 2003 · Open in CIViC	civic