VHL R64P (c.191G>C)

CI-VAR-00003870Explore in graph →NP_000542.1:p.Arg64ProNM_000551.3:c.191G>CClinVar 2226 CIViC 1867 rs104893826

Curated evidence

Evidence by cancer (19 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 1–19 of 19 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
Von Hippel-Lindau Disease18unmapped disease
VHL R64P (c.191G>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5094 Molecular analysis of VHL gene in 146 probands, 103 with and 43 without a positive family history, resulted in the detection of 43 germline VHL mutations. Majority of mutations were found in patients … (full text at CIViC) PMID 17661816 · Hes et al., 2007 · Open in CIViC	civic
VHL R64P (c.191G>C)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5185 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

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
2226	Pathogenic	reviewed by expert panel	3	Pheochromocytoma; Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	8	Jun 25, 2024	clinvar

Unmapped disease1unmapped disease
VHL R64P (c.191G>C)	(functional)	Functional	D	Supports Loss Of Function	3	submitted	EID8202 An in-vitro functional study of mutants related to Type 2C VHL disease. Type 2C pVHL mutants retain the ability to bind elongin B/C and Cul2, as well as downregulate HIF2alpha under normoxic condition… (full text at CIViC) PMID 11331612 · Hoffman et al., 2001 · Open in CIViC	civic