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

CI-VAR-00004238Explore in graph →NP_000542.1:p.=NM_000551.3:c.464-1G>CClinVar 223220 CIViC 2077 rs5030817

Curated evidence

Evidence by cancer (7 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 1–7 of 7 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 Disease7unmapped disease
VHL Splice Site (c.464-1G>C)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5429 20 individuals in 12 unrelated Brazilian families were referred for clinical suspicion of Von Hippel-Lindau disease. 16 of these individuals from 8 families fulfilled classical VHL diagnostic criteria… (full text at CIViC) PMID 20567917 · Gomy et al., 2010 · Open in CIViC	civic
VHL Splice Site (c.464-1G>C)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID5613 64 VHL patients with renal involvement were analyzed. 61 of the 64 patients had a known germline mutation. The above mutation was found in 1 patient. Clinical manifestations included renal cell carcin… (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
223220	Pathogenic	criteria provided, single submitter	1	Von Hippel-Lindau syndrome; Clear cell carcinoma of kidney; Nonpapillary renal cell carcinoma	germline	4	Jul 31, 2019	clinvar