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

CI-VAR-00004217Explore in graph →NP_000542.1:p.=NM_198156.2:c.340+1G>TCIViC 2074 rs730882032

Curated evidence

Evidence by cancer (3 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 1–3 of 3 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 Disease3unmapped disease
VHL Splice Site (c.340+1G>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	3	submitted	EID5604 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	civic
VHL Splice Site (c.340+1G>T)	(predisposing)	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6487 A family study indicated the presence of VHL mutation in a Kuwaiti family with Arab parentage. 10 family members were recruited, of which 1 was clinically diagnosed with VHL disease. Four children in … (full text at CIViC) PMID 15467305 · Alfadhli et al., 2004 · Open in CIViC

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.