ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2551del (p.Ile851fs)

dbSNP: rs763907170
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000845483 SCV000987579 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy criteria provided, single submitter clinical testing
Invitae RCV001858460 SCV002124893 pathogenic Arrhythmogenic right ventricular dysplasia 10 2023-06-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile851Leufs*13) in the DSG2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 268 amino acid(s) of the DSG2 protein. This variant is present in population databases (rs763907170, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 684841). This variant disrupts a region of the DSG2 protein in which other variant(s) (p.Glu1020Alafs*18) have been determined to be pathogenic (PMID: 20864495, 21397041, 23381804). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001858460 SCV003835864 pathogenic Arrhythmogenic right ventricular dysplasia 10 2022-10-19 criteria provided, single submitter clinical testing

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