VHL Splice Site (c.463+1G>A)

CI-VAR-00004233Explore in graph →NM_000551.3:c.463+1G>AClinVar 526679 CIViC 1972 rs869025657

Curated evidence

Evidence by cancer (9 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 1–9 of 9 evidence items across 2 cancer contexts 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
Renal Cell Carcinoma1
VHL Splice Site (c.463+1G>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5398 A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. Renal cell carcinoma occurred predominantly in non… (full text at CIViC) PMID 10761708 · Yoshida et al., 2000 · Open in CIViC	civic
Von Hippel-Lindau Disease8unmapped disease
VHL Splice Site (c.463+1G>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5307 43 Italian patients were molecularly analyzed for Von Hippel-Lindau disease based on clinical suspicion. 1 of the 43 patients was found to have the above mutation. Clinical manifestations associated w… (full text at 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
526679	Pathogenic	reviewed by expert panel	3	Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome	germline	5	Jun 25, 2024	clinvar