ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.154+6G>A

gnomAD frequency: 0.00001  dbSNP: rs778131915
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001188394 SCV001355451 likely benign Cardiomyopathy 2019-01-22 criteria provided, single submitter clinical testing
Invitae RCV001862975 SCV002218898 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2022-01-12 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the DSC2 gene. It does not directly change the encoded amino acid sequence of the DSC2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs778131915, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 926050). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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