Variant · Snv
MET M1250T
CI-VAR-00002559Explore in graph →NP_000236.2:p.Met1250ThrNM_000245.4:c.3749T>CClinVar 376126 CIViC 3372 rs121913245
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
- 9826715
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Unmapped disease1unmapped disease | ||||||||
| MET M1250T | (functional) | Functional | D | Supports Gain Of Function | 2 | submitted | EID9405MET mutations found in papillary renal carcinomas were introduced into a chimeric construct composed of NGF and the intracellular portion of MET, and these were expressed in NIH3T3 cells. Expression o… (full text at CIViC) PMID 9826715 · Jeffers et al., 1998 · 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
- 2026-09-06
- 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 |
|---|---|---|---|---|---|---|---|---|
| 376126 | Likely pathogenic | criteria provided, single submitter | 1 | Hereditary cancer-predisposing syndrome; Embryonal rhabdomyosarcoma | germline/somatic | 2 | Feb 28, 2024 | clinvar |