VHL Q132P (c.395A>C)

CI-VAR-00003482Explore in graph →NP_000542.1:p.Gln132ProNM_000551.3:c.395A>CClinVar 496063 CIViC 2125 rs1347416980

Curated evidence

Evidence by cancer (6 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 1–6 of 6 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 Disease6unmapped disease
VHL Q132P (c.395A>C)	(predisposing)	Predisposing	C	Supports Predisposition	4	accepted	EID5131 Genotype-phenotype correlations of 573 VHL patients were analyzed and confirmed that higher risk of pheochromocytoma is associated with missense mutations that result in substitution of a surface amin… (full text at CIViC) PMID 17024664 · Ong et al., 2007 · Open in CIViC	civic
VHL Q132P (c.395A>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID5718 A cohort of 141 patients with hemangioblastomas of the central nervous system was analyzed. 81 patients had germline mutations in the VHL gene. This missense mutation was found in one patient with hem… (full text at CIViC) PMID 10567493 · Gläsker et al., 1999 · 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
496063	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia	germline	3	Nov 11, 2024	clinvar