ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.2299+1G>A (rs794729116)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183774 SCV000236255 pathogenic not provided 2012-05-01 criteria provided, single submitter clinical testing c.2299+1 G>A: IVS11+1 G>A in intron 11 of the PKP2 gene (NM_004572.3). The c.2299+1 G>A mutation in the PKP2 gene has also not been reported previously as a disease-causing mutation, however this mutation destroys the consensus splice donor site of intron 11 and is expected to cause abnormal gene splicing. Three splice prediction algorithms concur that c.2299+1 G>A results in the loss of the normal splice donor site. This mutation is predicted to lead to either an abnormal message, which is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. In addition, other splice site mutations (c.2489+1 G>A, c.2489+4 C>A) in the PKP2 gene have been reported in association with ARVC (Van der Zwaag P et al., 2009). Therefore, c.2299+1 G>A in the PKP2 gene is interpreted to be a disease-causing mutation. The variant is found in ARVC panel(s).
Ambry Genetics RCV000622076 SCV000737878 likely pathogenic Cardiovascular phenotype 2017-01-09 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000183774 SCV000748029 pathogenic not provided 2016-12-22 criteria provided, single submitter clinical testing

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