VHL N131S (c.392A>G)

CI-VAR-00002859Explore in graph →NP_000542.1:p.Asn131SerClinVar 496062 CIViC 2001 rs1553619963

Curated evidence

Evidence by cancer (2 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 1–2 of 2 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 Disease2unmapped disease
VHL N131S (c.392A>G)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5380 A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot an… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC	civic
VHL N131S (c.392A>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6725 A Japanese family with Type 2A VHL disease was studied. Proband was a 25 year old male, who first presented with right pheochromocytoma at age 13, CNS hemangioblastoma and left pheochromocytoma at age… (full text at CIViC) PMID 17001110 · Imanaka et al., 2006 · 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
496062	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	3	Dec 19, 2024	clinvar