Variant · Snv
VHL L128F (c.382C>T)
CI-VAR-00002220Explore in graph →CIViC 3066
Curated evidence
Evidence by cancer (3 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
- 20846682
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease3unmapped disease | ||||||||
| VHL L128F (c.382C>T) | (predisposing) | Predisposing | C | Supports Predisposition | 2 | accepted | EID547826 VHL patients from 18 families, who had undergone a partial adrenalectomy for pheochromocytoma were retrospectively analyzed. 1 patient from a single family was confirmed to have the above mutation.… (full text at CIViC) PMID 20846682 · Benhammou et al., 2010 · Open in CIViC | civic |
| VHL L128F (c.382C>T) | (predisposing) | Predisposing | C | N/A N/A | 3 | submitted | EID8322Case report details an 11 year old female and 7 year old male (cousins) presenting with, respectively, unilateral and bilateral pheochromocytomas. Genetic testing on peripheral blood indicating a c.38… (full text at CIViC) PMID 31016171 · Pradhan et al., 2019 · 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