VHL V84M (c.250G>A)

CI-VAR-00004650Explore in graph →NP_000542.1:p.Val84MetNM_000551.3:c.250G>AClinVar 428813 CIViC 2101 rs5030827

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 V84M (c.250G>A)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	accepted	EID5660 This study examined 182 patients with non-syndromic pheochromocytoma or paraganglioma for the presence of VHL mutations. VHL mutations were found in 3 of the 182 patients. The above mutation was found… (full text at CIViC) PMID 22438210 · Eisenhofer et al., 2012 · Open in CIViC	civic
VHL V84M (c.250G>A)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID9134 The VHL gene was analyzed in 3 families from a Serbain population. Genomic DNA was screened by SSCP analysis and patients with variant bands were subjected to sequencing and confirmatory re-sequencing… (full text at CIViC) PMID 17688370 · Stanojevic et al., 2007 · 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
428813	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	7	Jan 13, 2026	clinvar