Variant · Indel
VHL L140fs*158 (c.419delT)
CI-VAR-00002243Explore in graph →NP_000542.1:p.Leu140ProfsTer19NM_000551.3:c.419delTCIViC 2559
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
- 7915601
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Kidney Carcinoma1 | ||||||||
| VHL L140fs*158 (c.419delT) | (predisposing) | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6916Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC | civic |
| Von Hippel-Lindau Disease1unmapped disease | ||||||||
| VHL L140fs*158 (c.419delT) | (predisposing) | Predisposing | C | Supports Predisposition | 3 | submitted | EID9388A cohort of VHL patients from the Greater Toronto Area in Canada were retrospectively reviewed. Patient ID 45 was found with this germline mutation and CNS hemangioblastoma. Whether patients were rela… (full text at 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