ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3185del (p.Gln1062fs)

dbSNP: rs2144361650
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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 RCV001973161 SCV002248144 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2021-12-17 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. This variant has not been reported in the literature in individuals affected with DSG2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1062Argfs*8) in the DSG2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 57 amino acid(s) of the DSG2 protein.

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