Variant · Indel
VHL I75Yfs*57 (c.224dupT)
CI-VAR-00002022Explore in graph →CIViC 3154
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
- 19096585
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease1unmapped disease | ||||||||
| VHL I75Yfs*57 (c.224dupT) | (predisposing) | Predisposing | C | N/A N/A | 2 | rejected | EID8644Nine patients were recruited who were previously treated for spinal cord hemangioblastomas including five patients with VHL disease. VHL mutation analysis was performed in three patients and two of th… (full text at CIViC) PMID 19096585 · Na et al., 2007 · 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.