ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.882dup (p.Phe295fs)

dbSNP: rs1060502989
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462858 SCV000551486 pathogenic Arrhythmogenic right ventricular dysplasia 11 2017-04-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in DSC2 are known to be pathogenic (PMID: 23911551). This sequence change inserts 1 nucleotide in exon 7 of the DSC2 mRNA (c.882dupA), causing a frameshift at codon 295. This creates a premature translational stop signal (p.Phe295Ilefs*23) and is expected to result in an absent or disrupted protein product.

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