Variant · Snv
VHL E160V (c.479A>T)
CI-VAR-00000669Explore in graph →NP_000542.1:p.Glu160ValNM_000551.3:c.479A>TClinVar 219157 CIViC 2502 rs864321641
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 E160V (c.479A>T) | (predisposing) | Predisposing | C | Supports Predisposition | 3 | submitted | EID6756150 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 E160V (c.479A>T) | (predisposing) | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6781Medical records of 31 genetically proven VHL patients with pheochromocytoma/paraganglioma were studied. A 21 year old Asian Indian male presented with endolymphatic sac tumour, unilateral pheochromocy… (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