ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2002-7C>G

dbSNP: rs1415718078
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001863455 SCV002113386 likely benign Arrhythmogenic right ventricular dysplasia 10 2024-01-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003533037 SCV004363210 uncertain significance Cardiomyopathy 2021-09-20 criteria provided, single submitter clinical testing This variant causes a C to G nucleotide substitution at the -7 position of intron 13 of the DSG2 gene. Splice prediction tools and conservation analysis are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 1/249212 chromosomes 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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