VHL Splice Site (c.341-1G>A)

CI-VAR-00004225Explore in graph →NP_000542.1:p.=NM_000551.3:c.341-1G>AClinVar 823743 CIViC 2017 rs1575927648

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 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 Disease2unmapped disease
VHL Splice Site (c.341-1G>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID5425 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.341-1G>A)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID6530 Tumor registries from four paediatric referral centers (Lucile Salter Packard Children’s Hospital, Childrens Hospital of Los Angeles, the Johns Hopkins Hospital, and Childrens Hospital of Buffalo) wer… (full text at CIViC) PMID 11835384 · Fisher et al., 2002 · 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
823743	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash polycythemia	germline	4	Jan 23, 2026	clinvar