VHL V84L (c.250G>T)

CI-VAR-00004649Explore in graph →NP_000542.1:p.Val84LeuNM_000551.3:c.250G>TClinVar 2236 CIViC 1815 rs5030827

Curated evidence

Evidence by cancer (11 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 1–11 of 11 evidence items across 2 cancer contexts 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 Disease10unmapped disease
VHL V84L (c.250G>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID4994 Screening of 3 patients with affected with familial PC for mutations in the RET proto-oncogene (mutations related to MEN 2 syndrome) and the VHL tumor suppressor gene (mutations related to VHL disease… (full text at CIViC) PMID 8592333 · Crossey et al., 1995 · Open in CIViC	civic
VHL V84L (c.250G>T)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID5230 74 patients with pheochromoctyoma were first analyzed by denaturing high performance liquid chromatography, and those showing variance were sequenced. 2 patients were found with the above mutation. AC… (full text at CIViC) PMID 19215943 · Meyer-Rochow 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
2236	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome	germline	6	Sep 15, 2025	clinvar

Unmapped disease1unmapped disease
VHL V84L (c.250G>T)	(functional)	Functional	D	Supports Loss Of Function	3	submitted	EID8203 An in-vitro functional study of mutants related to Type 2C VHL disease. Type 2C pVHL mutants retain the ability to bind elongin B/C and Cul2, as well as downregulate HIF2alpha under normoxic condition… (full text at CIViC) PMID 11331612 · Hoffman et al., 2001 · Open in CIViC	civic