VHL H115R (c.344A>G)

CI-VAR-00001887Explore in graph →NP_000542.1:p.His115ArgNM_000551.3:c.344A>GClinVar 664415 CIViC 2000 rs5030812

Curated evidence

Evidence by cancer (7 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 1–7 of 7 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 Disease7unmapped disease
VHL H115R (c.344A>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	accepted	EID5377 Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mutation was found in a German, VHL type 1 family of 2. Both patients had hemangioblastomas of the cen… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC	civic
VHL H115R (c.344A>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID5605 64 VHL patients with renal involvement were analyzed. 61 of the 64 patients had a known germline mutation. The above mutation was found in 1 patient. Clinical manifestations included renal cell carcin… (full text at CIViC) PMID 22156657 · Jilg et al., 2012 · 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
664415	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome	germline	2	Aug 04, 2023	clinvar