VHL R167P (c.500G>C)

CI-VAR-00003704Explore in graph →NP_000542.1:p.Arg167ProNM_000551.3:c.500G>CClinVar 428799 CIViC 2458 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 R167P (c.500G>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	accepted	EID6620 Patients with ELSTs were identified and included in the International Endolymphatic Sac Tumor Registry. The registry contained 93 patients as of July 2014, and of those, 25 were sporadic, and 68 assoc… (full text at CIViC) PMID 25867206 · Bausch et al., 2016 · Open in CIViC	civic
VHL R167P (c.500G>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	rejected	EID6766 The patient was a 42 year old female who first presented for assessment of a right-sided neck mass that had been causing discomfort for 3 months. Further testing found unilateral adrenal pheochromocyt… (full text at CIViC) PMID 28006088 · Berger et al., 2017 · 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
428799	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	3	Jan 18, 2026	clinvar