VHL R167L (c.500G>T)

CI-VAR-00003703Explore in graph →NP_000542.1:p.Arg167LeuNM_000551.3:c.500G>TClinVar 526685 CIViC 1916 rs5030821

Curated evidence

Evidence by cancer (3 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 1–3 of 3 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 R167L (c.500G>T)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5183 In a study of 426 unrelated VHL patients, 111 were discovered to have alterations in the VHL gene. 18 novel variants were identified in VHL patients, but none were present in 200 unaffected control in… (full text at CIViC) PMID 21463266 · Leonardi et al., 2011 · Open in CIViC	civic
VHL R167L (c.500G>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	1	accepted	EID6588 A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy. Individual patient data was not available, but frequency of specific mutations was presented. The … (full text at CIViC) PMID 26763786 · Feletti et al., 2016 · 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
526685	Pathogenic	criteria provided, single submitter	1	Chuvash polycythemia; Von Hippel-Lindau syndrome	germline	1	Feb 25, 2022	clinvar