ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1826dup (p.Leu610fs) (rs1039633976)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV000709721 SCV000839949 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 10 2017-03-07 criteria provided, single submitter clinical testing The c.1826dup (p.Leu610Profs*50) variant has not been reported in public databases, nor has been observed in our patient cohort. This 1bp duplication in exon 12 results in a frameshift and the creation of a premature stop codon at amino acid position 660. This variant is thus expected to result in a loss of function of the protein. Frameshift variants and variants affecting the canonical splice sites have been reported in patients with cardiomyopathy, arrhythmogenic right ventricular. This variant is thus classified as likely pathogenic.

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