Variant · Snv
KIT D820G
CI-VAR-00000565Explore in graph →NP_000213.1:p.Asp820GlyNM_000222.2:c.2459A>GClinVar 13853 CIViC 1266 rs121913682
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.
- 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
- 16954519
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Gastrointestinal Stromal Tumor3 | ||||||||
| KIT D820G | Imatinib | Predictive | C | Supports Resistance | 3 | accepted | EID2922147 patients with advanced, unresectable GISTs were enrolled onto a randomized, phase II clinical study of imatinib (CSTI571-B2222). Specimens from 43 pretreatment and/or imatinib-resistant tumors wer… (full text at CIViC) PMID 16954519 · Heinrich et al., 2006 · Open in CIViC | civic |
| KIT W557_K558del AND KIT D820G | Ponatinib | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID7412Ponatinib possesses potent activity against D820G KIT mutant in preclinical experiments. PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| KIT W557_K558del AND KIT D820G | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|
| 13853 | Uncertain significance | criteria provided, single submitter | 1 | MASTOCYTOSIS, SYSTEMIC, SOMATIC; Gastrointestinal stromal tumor; Germinoma | germline/somatic | 3 | Aug 12, 2022 | clinvar |