ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.1744-1G>T (rs1057524654)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426336 SCV000536169 uncertain significance not provided 2017-01-16 criteria provided, single submitter clinical testing The c.1744-1 G>T variant has not been reported as a pathogenic or benign to our knowledge. It destroys the canonical splice acceptor site in intron 12 at a position conserved across species, leaving the adjacent exon out of frame, and is predicted to cause abnormal gene splicing. This variant is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. However, no other definitively pathogenic splice site variants in the VCL gene have been reported in HGMD in association with cardiomyopathy (Stenson et al., 2014). Nevertheless, the c.1744-1 G>T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).

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