VHL N78I (c.233A>T)

CI-VAR-00002952Explore in graph →NP_000542.1:p.Asn78IleNM_000551.3:c.233A>TClinVar 223169 CIViC 2037 rs5030804

Curated evidence

Evidence by cancer (4 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 1–4 of 4 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 Disease4unmapped disease
VHL N78I (c.233A>T)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5489 A study of 34 Polish families revealed germline mutations in 30 families. Mutations were not detected in 4 probands fulfilling clinical criteria for von Hippel-Lindau disease (VHLD). This missense mut… (full text at CIViC) PMID 12114495 · Cybulski et al., 2002 · Open in CIViC	civic
VHL N78I (c.233A>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID5559 A case report of a female Japanese patient with VHL was presented. Genetic testing confirmed the presence of the above mutation. Clinical manifestations included: pancreatic cysts, cerebellar hemangio… (full text at CIViC) PMID 21673464 · Kanno et al., 2011 · 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
223169	Likely pathogenic	criteria provided, single submitter	1	Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	2	Nov 27, 2018	clinvar