VHL L178_D179insRVKPEL (c.531_532insCTGAGAGTAAAGCCTGAA)

CI-VAR-00002282Explore in graph →CIViC 4092

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 L178_D179insRVKPEL (c.531_532insCTGAGAGTAAAGCCTGAA)	(predisposing)	Predisposing	C	Supports Predisposition	3	submitted	EID10477 Molecular and clinical analysis of 126 French VHL families tested for renal involvement revealed 92 different mutations. 90 of these families had renal involvement. The p.L178_D179insRVKPEL (c.531_532… (full text at CIViC) PMID 15300849 · Gallou et al., 2004 · Open in CIViC	civic
VHL L178_D179insRVKPEL (c.531_532insCTGAGAGTAAAGCCTGAA)	(predisposing)	Predisposing	C	Supports Predisposition	2	submitted	EID10630 Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. Direct sequencing on peripheral blood was systematically performed on exon 1 P… (full text at CIViC) PMID 9829912 · Olschwang et al., 1998 · 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.