ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1374_1388del (p.Arg458_Gly463delinsSer)

dbSNP: rs2073222954
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001320786 SCV001511584 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2020-09-11 criteria provided, single submitter clinical testing This variant, c.1374_1388del, results in the deletion of 6 and insertion of 1 amino acid(s) in the DSG2 protein (p.Arg458_Gly463delinsSer), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DSG2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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