ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1511-1G>A (rs779082302)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255135 SCV000322673 pathogenic not provided 2016-08-23 criteria provided, single submitter clinical testing The c.1511-1G>A variant in the PKP2 gene has not been published previously, as a pathogenic variant or as a benign polymorphism, to our knowledge. This splice site variant destroys the canonical splice acceptor site in intron 6, causing the adjacent exon 7 to be out of frame. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Another variant affecting the same canonical splice site, c.1511-2A>G, has been reported in the Human Gene Mutation Database in association with arrhythmogenic right ventricular cardiomyopathy (Stenson et al., 2014). The c.1511-1G>A variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In summary, we interpret c.1511-1G>A as a pathogenic variant.

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