ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2620del (p.Thr874fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036046 SCV001199392 pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 10 2019-03-17 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DSG2 gene (p.Thr874Leufs*29). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 245 amino acids of the DSG2 protein. This variant is present in population databases (rs755243947, ExAC 0.002%). This variant has not been reported in the literature in individuals with DSG2-related conditions. This variant disrupts the C-terminus of the DSG2 protein. Other variant(s) that disrupt this region (p.Glu1020Alafs*18) have been determined to be pathogenic (PMID: 21397041, 20864495, 23381804). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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