VHL A149S (c.445G>T)

CI-VAR-00000063Explore in graph →NP_000542.1:p.Ala149SerNM_000551.2:c.445G>TClinVar 127829 CIViC 820 rs587780077

Curated evidence

Evidence by cancer (4 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 1–4 of 4 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 Disease4unmapped disease
VHL A149S (c.445G>T)	(predisposing)	Predisposing	C	Supports Predisposition	4	accepted	EID1896 Study of a large kindred with von Hippel-Lindau disease (VHLD) and pheochromocytoma (spread over four generations). 25 proven cases of VHLD and 17 cases with pheochromocytoma were identified. Mutation… (full text at CIViC) PMID 9435426 · Atuk et al., 1998 · Open in CIViC	civic
VHL A149S (c.445G>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	accepted	EID5679 49 family members from three generations of a Turkish family were examined. A clinical presentation of VHL type 2B was noted. Genetic testing was performed on 17 family members. 11 members with the mu… (full text at CIViC) PMID 23673869 · Mete et al., 2014 · 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
127829	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia	germline	5	Apr 11, 2025	clinvar