VHL V74G (c.221T>G)

CI-VAR-00004613Explore in graph →NP_000542.1:p.Val74GlyNM_000551.3:c.221T>GCIViC 1999 rs5030803

Curated evidence

Evidence by cancer (6 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 1–6 of 6 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 Disease6unmapped disease
VHL V74G (c.221T>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	accepted	EID5374 Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in 2 unrelated, German families. The VHL type 1 family of 4 affected individuals ha… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC	civic
VHL V74G (c.221T>G)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5424 43 unrelated VHL patients with previously sequenced VHL germline mutations and 36 suspected VHL mutation carriers were subject to denaturing high performance liquid chromatography (DHPLC) mutation scr… (full text at CIViC) PMID 11409863 · Klein et al., 2001 · Open in CIViC

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.