ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3174A>G (p.Gln1058=)

dbSNP: rs2073312645
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001178942 SCV001343508 likely benign Cardiomyopathy 2023-09-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769937 SCV004679244 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-12-31 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006514 SCV004819970 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-09-17 criteria provided, single submitter clinical testing This synonymous variant does not change the amino acid sequence of the DSG2 protein. However, computational splicing tools suggest that this variant may impact RNA splicing by creating a new splice acceptor site. To our knowledge, functional assays have not been performed for this variant nor has this variant 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). 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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