Variant · Snv

VHL R161* (c.481C>T)

CI-VAR-00003688Explore in graph →NP_000542.1:p.Arg161TerNM_000551.3:c.481C>TClinVar 2217 CIViC 1804 rs5030818

Curated evidence

Evidence by cancer (68 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 68 evidence items across 2 cancer contexts 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
Renal Cell Carcinoma1
VHL R161* (c.481C>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	accepted	EID5375 Of 65 VHL families from central Europe, 53 were identified with germline mutations. This nonsense mutation was found in 2 unrelated, German families. One VHL type 1 family of 2 affected individuals ha… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC	civic
Von Hippel-Lindau Disease49unmapped disease
VHL R161* (c.481C>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID4978 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)

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
2217	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Familial infantile myasthenia; Hemangioblastoma	germline/somatic	14	Jan 22, 2026	clinvar