ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.2357+1G>T (rs111517471)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183715 SCV000236193 pathogenic not provided 2018-04-05 criteria provided, single submitter clinical testing c.2489+1 G>T: IVS12+1 G>T in intron 12 of the PKP2 gene (NM_004572.3). The c.2489+1 G>T mutation in the PKP2 gene has been published previously in association with ARVC (DenHaan et al., 2009). The mutation destroys the canonical splice donor site in intron 12 and is expected to cause abnormal gene splicing. The mutation is predicted to lead to either 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. Other splice site mutations in the PKP2 gene have been reported in association with ARVC. In summary, c.2489+1 G>T in the PKP2 gene is interpreted as a disease-causing mutation. The variant is found in ARVC panel(s).
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038212 SCV000061880 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2009-10-07 no assertion criteria provided clinical testing

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