VHL G114R (c.340G>C)

CI-VAR-00001576Explore in graph →NP_000542.1:p.Gly114ArgNM_000551.3:c.340G>CClinVar 223193 CIViC 1857 rs869025636

Curated evidence

Evidence by cancer (14 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 1–14 of 14 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 Disease14unmapped disease
VHL G114R (c.340G>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5079 Germline mutation analysis of 469 VHL families reveled 300 mutations. The most common germline mutations were identified between codons 75-82, between codons 157-189 (Elongin binding domain) and at th… (full text at CIViC) PMID 8956040 · Zbar et al., 1996 · Open in CIViC	civic
VHL G114R (c.340G>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5305 43 Italian patients were molecularly analyzed for Von Hippel-Lindau disease based on clinical suspicion. 2 of the 43 patients (VHL-6 and -16) were found to have the above mutation. Clinical manifestat… (full text at CIViC) PMID 19464396 · Ciotti 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
223193	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome	germline	4	May 20, 2025	clinvar