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 101–103 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 Disease3unmapped disease
VHL R167W (c.499C>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID10859 Seventeen patients (age range 3–73) with VHL, including 12 probands and 5 relatives, that were observed between 2005 and 2020 were recruited for a retrospective analysis in relation to pancreatic neur… (full text at CIViC) PMID 34036514 · Penitenti et al., 2021 · Open in CIViC	civic
VHL R167W (c.499C>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID10870 The medical records of 78 Korean patients with pheochromocytoma (PCC) and paragangliomas (PGL) were examined, 61 patients were diagnosed with PCC and the other 17 patients with PGL. 57 patients were i… (full text at CIViC) PMID 33397040 · Choi et al., 2020 · 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
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