VHL N78D (c.232A>G)

CI-VAR-00002950Explore in graph →NP_000542.1:p.Asn78AspNM_000551.3:c.232A>GClinVar 625226 CIViC 2112 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 N78D (c.232A>G)	(predisposing)	Predisposing	C	Supports Predisposition	4	submitted	EID5687 This paper reports a VHL family harboring a novel missense mutation. Genetic testing was performed on 9 members of this kindred, which revealed 3 patients carried the above mutation. The 6 members who… (full text at CIViC) PMID 23224817 · Cingoz et al., 2013 · Open in CIViC	civic
VHL N78D (c.232A>G)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6744 Direct sequencing and multiplex ligation dependent probe amplification were performed on thirteen unrelated subjects with VHL mutations. The clinical manifestations and family histories of the subject… (full text at CIViC) PMID 27439424 · Lee et al., 2016 · 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
625226	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	4	Apr 12, 2023	clinvar