Variant · Snv

VHL R161Q (c.482G>A)

CI-VAR-00003693Explore in graph →NP_000542.1:p.Arg161GlnNM_000551.3:c.482G>AClinVar 182983 CIViC 1746 rs730882035

Curated evidence

Evidence by cancer (58 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 1–50 of 58 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 Disease50unmapped disease
VHL R161Q (c.482G>A)	(predisposing)	Predisposing	B	Supports Predisposition	3	submitted	EID9125 Genomic DNA was extracted from peripheral blood lymphocytes (PBLs) of the proband and her four first-degree relatives. To assess the possibility that the pro-band's father had an attenuated VHL phenot… (full text at CIViC) PMID 18205710 · Santarpia et al., 2007 · Open in CIViC	civic
VHL R161Q (c.482G>A)	(predisposing)	Predisposing	C	Supports Predisposition	4	accepted	EID4911 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. This … (full text at CIViC) PMID 7728151 · Chen et al., 1995 · 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
182983	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome; VHL-related disorder; Inherited phaeochromocytoma and paraganglioma excluding NF1; Nonpapillary renal cell carcinoma; Pheochromocytoma	germline	15	Jan 26, 2026