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

CI-VAR-00004234Explore in graph →NM_000551.3:c.463+1G>CClinVar 223217 CIViC 1998 rs869025657

Curated evidence

Evidence by cancer (2 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 1–2 of 2 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>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	accepted	EID5373 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 retinal angiomas, hemangioblastomas of the centr… (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC	civic
Von Hippel-Lindau Disease1unmapped disease
VHL Splice Site (c.463+1G>C)	(predisposing)	Predisposing	C	N/A N/A	2	submitted	EID9919 A cohort of 141 patients with hemangioblastomas of the central nervous system was analyzed. 81 patients had germline mutations in the VHL gene, analyzed through peripheral blood by Southern blotting a… (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
223217	Likely pathogenic	criteria provided, single submitter	1	Von Hippel-Lindau syndrome; Hereditary cancer-predisposing syndrome; Clear cell carcinoma of kidney	germline	3	Mar 13, 2025	clinvar