Variant · Deletion
KIT D579del
CI-VAR-00000505Explore in graph →NP_000213.1:p.Asp579delNM_000222.2:c.1735_1737delGATClinVar 409725 CIViC 977 rs1060502543
Curated evidence
Evidence by cancer (4 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.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 21364689
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Gastrointestinal Stromal Tumor3 | ||||||||
| KIT D579del | Imatinib | Predictive | D | Supports Sensitivity Response | — | submitted | EID2485Molecular 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 D579del | Sunitinib | Predictive | C | Supports Resistance | 2 | accepted | EID4142Patient 74 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 D579 deletio… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC | civic |
| KIT D579del | ||||||||
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 409725 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome | germline/somatic | 4 | Aug 30, 2025 | clinvar |