VHL H115P (c.344A>C)

CI-VAR-00001882Explore in graph →NP_000542.1:p.His115ProNM_000551.3:c.344A>CClinVar 560744 CIViC 1885 rs5030812

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 H115P (c.344A>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5140 Genotype-phenotype correlations of 573 VHL patients from 200 kindreds were analyzed. Higher risk of pheochromocytoma was associated with missense mutations that result in substitution of a surface ami… (full text at CIViC) PMID 17024664 · Ong et al., 2007 · Open in CIViC	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
560744	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Hereditary cancer-predisposing syndrome	germline	2	May 15, 2026	clinvar