Variant · Splice

VHL Splice Site (c.463+2T>C)

CI-VAR-00004236Explore in graph →NP_000542.1:p.?NM_000551.3:c.463+2T>CClinVar 569414 CIViC 2075 rs5030814

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.463+2T>C)	(predisposing)	Predisposing	C	Supports Predisposition	2	accepted	EID5356 Of 65 VHL families from central Europe, 53 were identified with germline mutations. This splice mutation was found in a Croatian, VHL type 1 family of 3. Each individual had retinal angiomas, one had … (full text at CIViC) PMID 8707293 · Glavac et al., 1996 · Open in CIViC	civic
VHL Splice Site (c.463+2T>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	accepted	EID5610 64 VHL patients with renal involvement were analyzed. 61 of the 64 patients had a known germline mutation. The above mutation was found in 2 patients. Clinical manifestations included renal cell carci… (full text at CIViC) PMID 22156657 · Jilg et al., 2012 · 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
569414	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Chuvash polycythemia; Von Hippel-Lindau syndrome; Clear cell carcinoma of kidney; Hereditary cancer-predisposing syndrome	germline	4	Mar 03, 2026	clinvar