ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.928_938dup (p.Ser313fs)

dbSNP: rs2137946568
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001800163 SCV002043725 likely pathogenic Arrhythmogenic right ventricular dysplasia 9 2021-12-28 criteria provided, single submitter clinical testing The variant c.928_938dup (p.(Ser313Argfs*11)) in exon 3 of the PKP2-gene is not found in the gnomAD database, it creates a frame shift starting at codon Ser313. The new reading frame ends in a STOP codon at position 11. Frameshift variants leading to a loss of function of PKP2 protein are a known mechanism of disease. ACMG criteria used for classification: PVS1, PM2.

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