VHL NM_000551.4(VHL):c.385C>G (p.Leu129Val)

CI-VAR-00082147Explore in graph →p.Leu129ValNM_000551.4:c.385C>GClinVar 486710 rs369018004

Curated evidence

Evidence by cancer (0 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.

Data not yet available

No curated evidence item references this variant yet.

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
486710	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau syndrome	germline	6	Nov 19, 2025	clinvar