ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.423del (p.Lys141fs)

dbSNP: rs2073125384
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001953430 SCV002243173 pathogenic Arrhythmogenic right ventricular dysplasia 10 2022-01-06 criteria provided, single submitter clinical testing 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). This sequence change creates a premature translational stop signal (p.Lys141Asnfs*3) 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).

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