ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs) (rs397516706)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642319 SCV000763988 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-02-11 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DSG2 gene (p.Ser1021Leufs*16). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 98 amino acids of the DSG2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals with clinical features of arrhythmogenic right ventricular cardiomyopathy (PMID: 23812740, 23810883). ClinVar contains an entry for this variant (Variation ID: 44310). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037297 SCV000060954 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2009-08-06 no assertion criteria provided clinical testing

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