ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.2291dup (p.Asn765fs)

dbSNP: rs1956120566
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268848 SCV001448053 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004659451 SCV005155372 pathogenic Cardiovascular phenotype 2024-05-14 criteria provided, single submitter clinical testing The c.2423dupA pathogenic mutation, located in coding exon 12 of the PKP2 gene, results from a duplication of A at nucleotide position 2423, causing a translational frameshift with a predicted alternate stop codon (p.N809Efs*18). This variant has been detected in individuals with features consistent with arrhythmogenic right ventricular cardiomyopathy (Biernacka EK et al. J Appl Genet, 2021 Dec;62:613-620; Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Mayo Clinic Laboratories, Mayo Clinic RCV001268848 SCV005414066 pathogenic not provided 2024-08-02 criteria provided, single submitter clinical testing PM2, PS4_supporting, PVS1

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