Variant · Snv
VHL P103H (c.308C>A)
CI-VAR-00003264Explore in graph →CIViC 3248
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
- 18928468
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease2unmapped disease | ||||||||
| VHL P103H (c.308C>A) | (predisposing) | Predisposing | C | N/A N/A | 3 | submitted | EID9003A case report revealed a 10Y Pacific Island boy with pheochromocytoma. Genetic analysis of 3 exons of the VHL gene revealed a germline VHL mutation (p.Pro103His). The mother was screened for VHL genet… (full text at CIViC) PMID 18928468 · Kim et al., 2008 · Open in CIViC | civic |
| VHL P103H (c.308C>A) | (predisposing) | Predisposing | C | Supports Predisposition | 3 | submitted | EID10487Of 38 PPGL (pheochromocytoma and paraganglioma) cases studied, two were associated with an individual carrying the germline mutation c.308C>A (ENSP00000256474.2 p.Pro103His) of the VHL gene. This muta… (full text at CIViC) PMID 26796762 · Flynn et al., 2016 · 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