Variant · Snv
VHL E52*(c.156G>T)
CI-VAR-00000764Explore in graph →CIViC 3383
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
- 21463266
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease1unmapped disease | ||||||||
| VHL E52*(c.156G>T) | (predisposing) | Predisposing | C | N/A N/A | 3 | rejected | EID9422In a study of 426 unrelated VHL patients, 111 were discovered to have alterations in the VHL gene. DNA samples from peripheral blood leukocytes underwent polymerase chain reaction (PCR) amplification,… (full text at CIViC) PMID 21463266 · Leonardi et al., 2011 · 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.