ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1385del (p.Asn462fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003322734 SCV004027831 likely pathogenic Arrhythmogenic right ventricular dysplasia 10 2023-06-28 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP
Invitae RCV003322734 SCV004505173 pathogenic Arrhythmogenic right ventricular dysplasia 10 2023-02-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn462Metfs*6) in the DSG2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DSG2 are known to be pathogenic (PMID: 17105751, 31386562). For these reasons, this variant has been classified as Pathogenic. 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).

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