ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.588_589insCGTGTCCT (p.Cys197fs)

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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 RCV004805962 SCV005427509 uncertain significance Familial isolated arrhythmogenic right ventricular dysplasia 2024-07-10 criteria provided, single submitter clinical testing This variant inserts 8 nucleotides in exon 5 of the DSC2 gene, creating a frameshift and premature translation stop signal. This variant is expected to 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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