ClinVar Miner

Submissions for variant NM_000551.4(VHL):c.463G>T (p.Val155Leu) (rs869025659)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001022829 SCV001184608 likely pathogenic Hereditary cancer-predisposing syndrome 2018-03-10 criteria provided, single submitter clinical testing The c.463G>T variant (also known as p.V155L), located in coding exon 2 of the VHL gene, results from a G to T substitution at nucleotide position 463. This change occurs in the last base pair of coding exon 2, which makes it likely to have some effect on normal mRNA splicing. This nucleotide position is highly conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by BDGP to abolish the native splice donor site, but is predicted to weaken (but not abolish) the efficiency of the native splice donor site by ESEfinder; however, direct evidence is unavailable. Two other nucleotide substitutions at the same position, c.463G>C and c.463G>A (also designated 676G>A), have been detected in individuals diagnosed with VHL (Kondo K et al. Hum. Mol. Genet. 1995 Dec;4:2233-7; Gallou C et al. Hum. Mutat. 2004 Sep;24:215-24). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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