ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1801del (p.Glu601fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003516643 SCV004301842 pathogenic Arrhythmogenic right ventricular dysplasia 10 2023-11-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu601Lysfs*18) 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). This variant is present in population databases (rs761852941, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with arrhythmogenic right ventricular cardiomyopathy (PMID: 31638835). For these reasons, this variant has been classified as Pathogenic.

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