VHL S65W (c.194C>G)

CI-VAR-00004100Explore in graph →NP_000542.1:p.Ser65TrpNM_000551.3:c.194C>GClinVar 43597 CIViC 1787 rs5030826

Curated evidence

Evidence by cancer (29 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 1–29 of 29 evidence items across 1 cancer context 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
Von Hippel-Lindau Disease29unmapped disease
VHL S65W (c.194C>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID4917 In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. The S… (full text at CIViC) PMID 7728151 · Chen et al., 1995 · Open in CIViC	civic
VHL S65W (c.194C>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID4958 An investigation of 94 VHL patients without large deletions for intragenic mutations revealed 40 different mutations in 55 unrelated individuals. In all patients with multiple affected family members … (full text at CIViC) PMID 7987306 · Crossey et al., 1994 · Open in 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
43597	Pathogenic	reviewed by expert panel	3	Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome; VHL-related disorder	germline	13	Jun 25, 2024	clinvar