ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2125_2126insA (p.Cys709Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004014196 SCV004843797 uncertain significance Familial isolated arrhythmogenic right ventricular dysplasia 2023-11-20 criteria provided, single submitter clinical testing This variant inserts 1 nucleotide at the 3' end of exon 13 of the DSC2 gene. Splice site prediction tools indicate that this variant has no significant impact on RNA splicing. This variant is expected to introduce a premature translation stop signal at codon 709 and result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with DSC2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Although there is a suspicion for a pathogenic role, clinical relevance of loss-of-function DSC2 truncation and splice variants in autosomal dominant arrhythmogenic cardiomyopathy is not yet clearly established. The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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