Variant · Snv
VHL V155M (c.463G>A)
CI-VAR-00004456Explore in graph →NP_000542.1:p.Val155MetNM_000551.3:c.463G>AClinVar 223219 CIViC 2076 rs869025659
Curated evidence
Evidence by cancer (5 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
- 11505222
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Clear Cell Renal Cell Carcinoma1 | ||||||||
| VHL V155M (c.463G>A) | (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6157This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| Von Hippel-Lindau Disease4unmapped disease | ||||||||
| VHL V155M (c.463G>A) | (predisposing) | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID561164 VHL patients with renal involvement were analyzed. 61 of the 64 patients had a known germline mutation. The above mutation was found in 1 patient. Clinical manifestations included renal cell carcin… (full text at CIViC) | |
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 223219 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Von Hippel-Lindau syndrome; Chuvash polycythemia | germline | 4 | Mar 04, 2025 | clinvar |