VHL N131K (c.393C>A)

CI-VAR-00002857Explore in graph →NP_000542.1:p.Asn131LysNM_000551.3:c.393C>AClinVar 420074 CIViC 1953 rs1064794272

Curated evidence

Evidence by cancer (5 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 1–5 of 5 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 Disease5unmapped disease
VHL N131K (c.393C>A)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5266 Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 2A patient (patient no. V233). … (full text at CIViC) PMID 9829912 · Olschwang et al., 1998 · Open in CIViC	civic
VHL N131K (c.393C>A)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5457 53 patients with a molecularly confirmed VHL mutation and a pancreatic neuroendocrine tumor were collected from the German NET-Registry and the German VHL-registry. 1 patient was found to have the abo… (full text at CIViC) PMID 20660572 · Erlic et al., 2010 · 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
420074	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome	germline	5	Apr 14, 2025	clinvar