ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1878A>G (p.Leu626=)

gnomAD frequency: 0.00004  dbSNP: rs771576658
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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 RCV000774218 SCV000907919 likely benign Cardiomyopathy 2018-10-15 criteria provided, single submitter clinical testing
Invitae RCV001352033 SCV001546556 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2023-05-22 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This sequence change affects codon 626 of the DSG2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DSG2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs771576658, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 629509). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003117562 SCV003800899 uncertain significance not specified 2023-01-14 criteria provided, single submitter clinical testing

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