ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.82-3T>C

gnomAD frequency: 0.00001  dbSNP: rs370099811
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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 RCV001182847 SCV001348443 likely benign Cardiomyopathy 2019-03-19 criteria provided, single submitter clinical testing
Invitae RCV001212706 SCV001384299 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2022-03-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DSG2-related conditions. 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 922662). This variant is present in population databases (rs370099811, gnomAD 0.01%). This sequence change falls in intron 2 of the DSG2 gene. It does not directly change the encoded amino acid sequence of the DSG2 protein. It affects a nucleotide within the consensus splice site.

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