ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.2047A>T (p.Lys683Ter)

dbSNP: rs1956192249
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001203788 SCV001374965 pathogenic Arrhythmogenic right ventricular dysplasia 9 2019-06-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PKP2 are known to be pathogenic (PMID: 15489853, 23911551). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in an individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 24125834). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys727*) in the PKP2 gene. It is expected to result in an absent or disrupted protein product.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001203788 SCV005417499 pathogenic Arrhythmogenic right ventricular dysplasia 9 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PP4

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