ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3225_3226del (p.Ser1077fs)

dbSNP: rs2144361775
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001525702 SCV001735882 uncertain significance Cardiomyopathy 2020-10-26 criteria provided, single submitter clinical testing This variant deletes 2 nucleotides in exon 15 of the DSG2 gene, creating a frameshift in the last exon. The mutant transcript is expected to escape nonsense-mediated decay and be expressed as a protein product containing an altered C-terminal sequence. To our knowledge, this variant has not been reported in individuals affected with cardiovascular 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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