ClinVar Miner

Submissions for variant NC_000018.10:g.(?_31070706)_(31070870_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644661 SCV000766364 pathogenic Arrhythmogenic right ventricular dysplasia 11 2022-06-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DSC2-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 13-14 of the DSC2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in DSC2 are known to be pathogenic (PMID: 23911551).

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