Variant · Snv
KIT D820Y
CI-VAR-00000566Explore in graph →NP_000213.1:p.Asp820TyrNM_000222.2:c.2458G>TClinVar 375928 CIViC 986 rs1057519710
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
- 22614970
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Gastrointestinal Stromal Tumor1 | ||||||||
| KIT D820Y | Regorafenib Anhydrous | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID4589This retrospective study of a phase 2 clinical trial (NCT01068769) examined regorafenib safety and efficacy in advanced gastrointestinal stromal tumor (GIST) patients refractory to at least imatinib a… (full text at CIViC) PMID 22614970 · George et al., 2012 · Open in CIViC | civic |
| Melanoma3 | ||||||||
| KIT D820Y | (prognostic) | Prognostic | C | Supports N/A | 2 | submitted | EID2887261 Australian patients with melanoma were screened for mutations in KIT exons 11,13 and 17. 5 KIT mutations were found, including in 2 of the 4 total acral melanomas assessed. 1 subject with acral me… (full text at CIViC) PMID 20088873 · | |
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
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 375928 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome | germline | 3 | Feb 04, 2025 | clinvar |