Variant · Snv
VHL V170A (c.509T>C)
CI-VAR-00004479Explore in graph →NP_000542.1:p.Val170AlaNM_000551.3:c.509T>CClinVar 219159 CIViC 1910 rs864321642
Curated evidence
Evidence by cancer (2 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
- 27539324
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease2unmapped disease | ||||||||
| VHL V170A (c.509T>C) | (predisposing) | Predisposing | C | Supports Predisposition | 3 | submitted | EID6760150 index patients with pheochromocytoma/paraganglioma were evaluated. Phenotypic data were collected and germline mutations in five susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) were tested. A… (full text at CIViC) PMID 27539324 · Pandit et al., 2016 · Open in CIViC | civic |
| VHL V170A (c.509T>C) | (predisposing) | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6786Medical records of 31 genetically proven VHL patients with pheochromocytoma/paraganglioma were studied. A 30 year old Asian Indian male presented with unilateral pheochromocytoma. Genetic testing conf… (full text at CIViC) PMID 29124493 · Lomte et al., 2018 · 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