ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3340C>T (p.Gln1114Ter) (rs776078563)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642311 SCV000763980 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 10 2019-02-04 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DSG2 gene (p.Gln1114*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 5 amino acids of the DSG2 protein. 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 disease. 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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