ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1371_1376del (p.457TV[1])

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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 RCV004805944 SCV005427465 uncertain significance Familial isolated arrhythmogenic right ventricular dysplasia 2024-07-29 criteria provided, single submitter clinical testing This variant causes an in-frame deletion of six amino acids in exon 10 of the DSC2 protein. To our knowledge, functional studies have not been reported for this variant. 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). 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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