VHL N78Y (c.232A>T)

CI-VAR-00002957Explore in graph →NP_000542.1:p.Asn78TyrNM_000551.3:c.232A>TClinVar 223167 CIViC 2113 rs869025621

Curated evidence

Evidence by cancer (3 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 1–3 of 3 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 Disease3unmapped disease
VHL N78Y (c.232A>T)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5688 Genetic analysis of 7 Hungarian individuals from 5 unrelated families affected with von Hippel-Lindau disease revealed 5 different mutations, 3 of which were novel. The mutations could not be found wi… (full text at CIViC) PMID 23298237 · Losonczy et al., 2013 · Open in CIViC	civic
VHL N78Y (c.232A>T)	(predisposing)	Predisposing	C	N/A N/A	3	submitted	EID8328 A retrospective series of case reports details the clinical course of a 50 year old female with a c.232A>T mutaiton in the VHL gene, leading to a p.Asn78Tyr protein change. Her presentations included … (full text at CIViC) PMID 29947576 · Yuan et al., 2018 · 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
223167	Likely pathogenic	criteria provided, single submitter	1	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome	germline	2	Apr 08, 2024	clinvar