VHL G114V (c.341G>T)

CI-VAR-00001578Explore in graph →NP_000542.1:p.Gly114ValNM_000551.4:c.341G>TCIViC 2491

Curated evidence

Evidence by cancer (1 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 1–1 of 1 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 Disease1unmapped disease
VHL G114V (c.341G>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6730 Tissues from 23 CNS hemangioblastoma patients were analyzed. 8 patients had germline VHL mutations. One patient with a germline missense mutation (c.341G>T; p.Gly114Val) in the VHL gene was diagnosed … (full text at CIViC) PMID 24335534 · Muscarella et al., 2014 · Open in CIViC	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.