Variant · Snv

VHL R167W (c.499C>T)

CI-VAR-00003708Explore in graph →NP_000542.1:p.Arg167TrpNM_000551.3:c.499C>TClinVar 2218 CIViC 1747 rs5030820

Curated evidence

Evidence by cancer (103 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 51–100 of 103 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 R167W (c.499C>T)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8148 33 patients diagnosed with VHL disease, according to (Maher et al. 1990), were tested for germline VHL mutations. Genetic testing was performed on high-molecular-weight DNA from peripheral blood using… (full text at CIViC) PMID 9106522 · Prowse et al., 1997 · Open in CIViC	civic
VHL R167W (c.499C>T)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8149 33 patients diagnosed with VHL disease, according to (Maher et al. 1990), were tested for germline VHL mutations. Genetic testing was performed on high-molecular-weight DNA from peripheral blood using… (full text at CIViC) PMID 9106522 · Prowse et al., 1997 · 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
2218	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Pheochromocytoma; Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Nonpapillary renal cell carcinoma; VHL-related disorder	germline/somatic	22	Nov 24, 2025	clinvar