VHL M211L (c.631A>C)

CI-VAR-00002575Explore in graph →NP_000542.1:p.Met211LeuClinVar 182990 CIViC 2868 rs200019083

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.

civicCuratedShowing 1–2 of 2 evidence items across 2 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Malignant Breast Neoplasm1
VHL M211L (c.631A>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID10760 45 Lebanese patients with a reported family history of breast cancer were observed in this study. Using Whole Exome Sequencing (WES) with Sanger sequencing, various germline mutations were found. One … (full text at CIViC) PMID 28202063 · Jalkh et al., 2017 · Open in CIViC	civic
Von Hippel-Lindau Disease1unmapped disease
VHL M211L (c.631A>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID7718 Out of 48 Danish families presenting with renal cell carcinoma, one patient was found to harbuor the germline mutation c.631A>C in VHL. The mutation was evaluated from peripheral blood or healthy tiss… (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.

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

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
182990	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome; VHL-related disorder	germline	14	Jan 26, 2026	clinvar