VHL N150S (c.449A>G)

CI-VAR-00002875Explore in graph →NP_000542.1:p.Asn150SerNM_000551.3:c.449A>GClinVar 371992 CIViC 2162 rs760184234

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 N150S (c.449A>G)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5799 This is a case report on a 9-month-old female with polycythemia. The patient carries a de novo nonsense mutation [Q145* (c.433C>T)] and this paternally inherited, missense mutation. The authors of thi… (full text at CIViC) PMID 25586603 · Sidhu et al., 2015 · 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
371992	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome	germline	12	Dec 29, 2025	clinvar