Variant · Splice

VHL Splice Site (c.464-1G>A)

CI-VAR-00004237Explore in graph →NM_000551.3:c.464-1G>AClinVar 43603 CIViC 1974 rs5030817

Curated evidence

Evidence by cancer (11 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 1–11 of 11 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 Disease11unmapped disease
VHL Splice Site (c.464-1G>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5309 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) PMID 19464396 · Ciotti et al., 2009 · Open in CIViC	civic
VHL Splice Site (c.464-1G>A)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5357 Of 65 VHL families from central Europe, 53 were identified with germline mutations. This splice mutation was found in a German, VHL type 1 patient with hemangioblastomas of the central nervous system … (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · 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
43603	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome; Nonpapillary renal cell carcinoma; Pheochromocytoma	germline	6	Nov 25, 2025	clinvar