Variant · Snv
KIT RS3733542
CI-VAR-00003947Explore in graph →NP_000213.1:p.Leu862=NM_000222.2:c.2586G>CClinVar 255572 CIViC 482 rs3733542
Curated evidence
Evidence by cancer (1 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
- 24178622
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Acute Myeloid Leukemia1 | ||||||||
| KIT RS3733542 | Selumetinib | Predictive | B | Supports Sensitivity Response | 1 | accepted | EID1136Patients with relapsed/refractory AML or 60 years old or more with untreated AML were enrolled on a phase II study of selumetinib and analyzed for mutations in KIT, NRAS, KRAS and FLT3. KIT mutation a… (full text at CIViC) PMID 24178622 · Jain et al., 2014 · Open in CIViC | 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
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 255572 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Piebaldism; Gastrointestinal stromal tumor; Mastocytosis; Hereditary cancer-predisposing syndrome | germline | 10 | Jun 05, 2026 | clinvar |