Variant · Snv
VHL W117S (c.350G>C)
CI-VAR-00004678Explore in graph →NP_000542.1:p.Trp117SerNM_000551.3:c.350G>CCIViC 2523
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
- 28388566
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease3unmapped disease | ||||||||
| VHL W117S (c.350G>C) | (predisposing) | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6823A retrospective cohort study included all the VHL patients diagnosed at Peking University First Hospital (Beijing, China) prior to June 1 2016. A total of 291 patients from 115 different families were… (full text at CIViC) PMID 28388566 · Peng et al., 2017 · Open in CIViC | civic |
| VHL W117S (c.350G>C) | (predisposing) | Predisposing | C | Supports Predisposition | 3 | submitted | EID10486Of 38 PPGL (pheochromocytoma and paraganglioma) cases studied, one was associated with an individual carrying the germline mutation c.350G>C (ENSP00000256474.2 p.Trp117Ser) of the VHL gene. This mutat… (full text at CIViC) PMID 26796762 · Flynn et al., 2016 · Open in 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