ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2321del (p.Asn774fs)

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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 RCV003516989 SCV004315445 pathogenic Arrhythmogenic right ventricular dysplasia 10 2023-08-24 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the DSG2 protein in which other variant(s) (p.Glu1020Alafs*18) have been determined to be pathogenic (PMID: 20864495, 21397041, 23381804; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This sequence change creates a premature translational stop signal (p.Asn774Ilefs*34) in the DSG2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 345 amino acid(s) of the DSG2 protein.

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