VHL Splice Site (c.340+1G>A)

CI-VAR-00004216Explore in graph →NM_000551.3:c.340+1G>AClinVar 223190 CIViC 2114 rs730882032

Curated evidence

Evidence by cancer (16 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 1–16 of 16 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 Disease16unmapped disease
VHL Splice Site (c.340+1G>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5099 Molecular analysis of VHL gene in 146 probands, 103 with and 43 without a positive family history, resulted in the detection of 43 germline VHL mutations. Majority of mutations were found in patients … (full text at CIViC) PMID 17661816 · Hes et al., 2007 · Open in CIViC	civic
VHL Splice Site (c.340+1G>A)	(predisposing)	Predisposing	C	Supports Predisposition	3	accepted	EID5332 14 Chinese patients from 10 families were diagnosed with Von Hippel-Lindau disease based on clinical criteria. Genetic testing demonstrated 1 member of a single family harbored the above mutation. Cli… (full text at CIViC) PMID 20518900 · Zhou et al., 2010 · 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
223190	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome; Clear cell carcinoma of kidney	germline	6	Jul 25, 2023	clinvar