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 51–68 of 68 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 Disease18unmapped disease
VHL R161* (c.481C>T)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID9109 12 patients with supratentorial hemangioblastoma were studied at Le Kremlin-Bicêtre University. Other phenotypes included: 6 patients with pancreatic cysts, 1 patient with an endocrine pancreatic tumo… (full text at CIViC) PMID 20647972 · Peyre et al., 2010 · Open in CIViC	civic
VHL R161* (c.481C>T)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID9128 All hemangioblastoma paients treated at The University of Tokyo Hospital from 1954 to 1998 were retrospectively analyzed. Genetic analysis was done on one 31Y M patient, patient #15 and showed a p.Arg… (full text at CIViC) PMID 11685621 · Sora et al., 2001 · Open in CIViC	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