Variant · Snv
VHL N131*(c.390dupT)
CI-VAR-00002856Explore in graph →CIViC 4271
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
- 33488018
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease1unmapped disease | ||||||||
| VHL N131*(c.390dupT) | (predisposing) | Predisposing | C | Supports Predisposition | 3 | submitted | EID10941A 21-year-old male presented with long-standing poor vision in the right eye. He was found to have a large exudative retinal detachment (ERD) in the right eye with multiple retinal capillary hemangiob… (full text at CIViC) PMID 33488018 · Bunajem et al., 2020 · 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.