ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.69+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1245669690
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783144 SCV002021764 pathogenic Arrhythmogenic right ventricular dysplasia 11 2019-12-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001806261 SCV002053649 uncertain significance Cardiomyopathy 2021-04-05 criteria provided, single submitter clinical testing This variant causes a G to A nucleotide substitution at the +1 position of intron 1 of the DSC2 gene. Splice prediction tools suggest that this variant may have a significant impact on 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 1/125366 chromosomes 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. Therefore, this variant is classified as a Variant of Uncertain Significance.
GeneDx RCV004720936 SCV005327662 likely pathogenic not provided 2024-03-12 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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