Variant · Snv
KIT A829P
CI-VAR-00000143Explore in graph →NP_000213.1:p.Ala829ProNM_000222.2:c.2485G>CClinVar 375933 CIViC 990 rs1057519713
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
- 25239608
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Gastrointestinal Stromal Tumor4 | ||||||||
| KIT A829P | Ponatinib | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID5862Ponatinib possesses potent activity against most major clinically-relevant KIT mutants, and has demonstrated preliminary evidence of activity in patients with refractory GIST. These data strongly supp… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| KIT A829P | Ponatinib | Predictive | D | Does Not Support Resistance | 4 | accepted | EID7413Ponatinib possesses potent activity against A829P KIT mutant cells in preclinical experiments. A preclinical study tested the effect of a tyrosine kinase inhibitor (TKI) on Ba/F3 cell lines with repre… (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.
- 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 |
|---|---|---|---|---|---|---|---|---|
| 375933 | Pathogenic | criteria provided, single submitter | 1 | Gastrointestinal stromal tumor; Germ cell tumor of testis; Germinoma | germline/somatic | 3 | Aug 21, 2025 | clinvar |