ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.2358-1_2358delinsTT

dbSNP: rs1956082403
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001205630 SCV001376897 likely pathogenic Arrhythmogenic right ventricular dysplasia 9 2019-09-08 criteria provided, single submitter clinical testing Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PKP2 are known to be pathogenic (PMID: 15489853, 23911551). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Disruption of this splice site has been observed in an individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 15489853). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 12 of the PKP2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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