Variant · Snv
VHL W117R (c.349T>C)
CI-VAR-00004677Explore in graph →CIViC 3715
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.
civicProvenance
- 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
- 20151405
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease1unmapped disease | ||||||||
| VHL W117R (c.349T>C) | (predisposing) | Predisposing | C | N/A N/A | 3 | submitted | EID10124This study reports 1,548 germline and somatic mutations from 945 VHL families, including 30 previously unpublished kindreds from The Netherlands (six novel mutations). This mutation was detected by di… (full text at CIViC) PMID 20151405 · Nordstrom-O'Brien et al., 2010 · Open in CIViC | civic |
ClinVar
Clinical significance (0)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
Data not yet available
No ClinVar interpretation attached to this variant.