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 51–58 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 Disease8unmapped disease
VHL R161Q (c.482G>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID10671 A 15-year-old Indian male presented in 2017 with a history of acute-onset painless vision loss of both eyes. He also had intermittent history of headache, which was not severe before the onset of visi… (full text at CIViC) PMID 33531956 · Nair et al., 2020 · Open in CIViC	civic
VHL R161Q (c.482G>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID10728 This report studied the prevalence of germline variants in Japanese PPGL patients. Of the 370 PPGL original Japanese probands, this cohort consisted of 15 patients with pheochromocytoma and/or paragan… (full text at CIViC) PMID 34439168 · Yonamine et al., 2021 · 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