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 1–50 of 103 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
Kidney Carcinoma1
VHL R167W (c.499C>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6926 Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC	civic
Von Hippel-Lindau Disease49unmapped disease
VHL R167W (c.499C>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID4912 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 ·

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