VHL P40R (c.119C>G)

CI-VAR-00003342Explore in graph →NP_000542.1:p.Pro40ArgNM_000551.3:c.119C>GClinVar 809420 CIViC 2430 rs200343185

Curated evidence

Evidence by cancer (1 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 1–1 of 1 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 Disease1unmapped disease
VHL P40R (c.119C>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6500 A case report revealed a 34-year-old, Caucasian male diagnosed with bilateral pheochromocytoma. Genetic testing revealed a c.500G>A (p.Arg167Gln) mutation in the VHL gene. The paper did not explicitly… (full text at CIViC) PMID 9523203 · Teh et al., 1998 · 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
809420	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Chuvash polycythemia; Von Hippel-Lindau syndrome	germline	3	Feb 24, 2023	clinvar