VHL N90H (c.268A>C)

CI-VAR-00002973Explore in graph →NP_000542.1:p.Asn90HisNM_000551.3:c.268A>CCIViC 2878

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 N90H (c.268A>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID7742 Case report of a 6Y girl presenting with pheochromocytoma was found with this de novo germline missense mutation in the VHL gene. She was concieved by in vitro fertilization, therefore likely PS2. Pat… (full text at CIViC) PMID 18251729 · Corcoran et al., 2008 · Open in CIViC	civic

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.