VHL R82L (c.245G>T)

CI-VAR-00003906Explore in graph →NP_000542.1:p.Arg82LeuNM_000551.3:c.245G>TClinVar 526675 CIViC 2110 rs794726890

Curated evidence

Evidence by cancer (7 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 1–7 of 7 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 Disease7unmapped disease
VHL R82L (c.245G>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5678 An Indian family with VHL was examined. Genetic testing was performed on 5 family members, and three were found to harbour the mutation. The three members with a mutation acquired pheochromocytoma at … (full text at CIViC) PMID 23626751 · John et al., 2013 · Open in CIViC	civic
VHL R82L (c.245G>T)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5692 A case report of a 4-year-old male with VHL is described. Clinical manifestations in this patient included bilateral pheochromocytoma and hemihypertrophy. ACMG evidence codes: 'PP2' because they obser… (full text at CIViC) PMID 23327821 · Amini et al., 2013 · 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
526675	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome	germline	5	Jan 11, 2026	clinvar