ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1521-1G>A

dbSNP: rs886039128
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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 RCV000246983 SCV000320218 likely pathogenic Cardiovascular phenotype 2015-09-10 criteria provided, single submitter clinical testing The c.1521-1G>A intronic variant results from a G to A substitution one nucleotide upstream from coding exon 11 of the DSC2 gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native acceptor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay, and splice and other loss-of-function variants have been previously described in the DSC2 gene (Heuser A, Am J Hum Genet. 2006; 79(6):1081-8). As such, the c.1521-1G>A variant is classified as likely pathogenic.

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