KIT D419del

CI-VAR-00000489Explore in graph →NP_000213.1:p.Asp419delNM_000222.3:c.1255_1257delCIViC 855

Curated evidence

Evidence by cancer (2 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 1–2 of 2 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 Tumor2
KIT D419del	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID9295 A novel germline KIT variant, D419del, was discovered in a family with mastocytosis. Case 1, a 60 year old German woman, also had a gastrointestinal stromal tumor (GIST) and dysphagia. Case 2, her 38 … (full text at CIViC) PMID 16143141 · Hartmann et al., 2005 · Open in CIViC	civic
KIT D419del	Imatinib	Predictive	D	Supports Sensitivity Response	3	submitted	EID1962 Family with both familial GISTs and mastocytosis expressed a novel germline KIT mutation in exon 8 (p.419del) affecting the extracellular domain of KIT. This mutation activates KIT, and the mutant KIT… (full text at CIViC) PMID 16143141 · Hartmann et al., 2005 · Open in CIViC	civic

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.