VHL R167G (c.499C>G)

CI-VAR-00003701Explore in graph →NP_000542.1:p.Arg167GlyNM_000551.3:c.499C>GClinVar 2219 CIViC 1805 rs5030820

Curated evidence

Evidence by cancer (4 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 1–4 of 4 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 Disease4unmapped disease
VHL R167G (c.499C>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID4979 An investigation of 94 VHL patients without large deletions for intragenic mutations revealed 40 different mutations in 55 unrelated individuals. In all patients with multiple affected family members … (full text at CIViC) PMID 7987306 · Crossey et al., 1994 · Open in CIViC	civic
VHL R167G (c.499C>G)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5241 Seven Hungarian families (35 members) with VHL and 37 unrelated patients with apparently sporadic pheochromocytoma had their VHL gene molecularly analyzed. The above mutation was found in 1 patient wi… (full text at CIViC) PMID 19574279 · Gergics et al., 2009 · 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
2219	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome	germline	4	Jun 26, 2022	clinvar