ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1881G>A (p.Leu627=)

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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 RCV003071213 SCV003452081 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2022-01-19 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This variant is present in population databases (rs754778907, gnomAD 0.002%). This sequence change affects codon 627 of the DSG2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DSG2 protein.
Color Diagnostics, LLC DBA Color Health RCV003533342 SCV004363205 likely benign Cardiomyopathy 2023-07-06 criteria provided, single submitter clinical testing

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