ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.2434G>A (p.Asp812Asn) (rs200947767)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455220 SCV000540043 uncertain significance not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Only probands are compound hets; ExAC: 2/8654 East Asian chromosomes
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000623568 SCV000740393 uncertain significance Left ventricular noncompaction 2016-11-30 criteria provided, single submitter clinical testing
Color RCV000772018 SCV000904974 uncertain significance Cardiomyopathy 2018-09-10 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the armadillo repeat 9 of the PKP2 protein. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein function. Computational splicing tools suggest that this variant may not impact the RNA splicing. To our knowledge, functional assays have not been performed for this variant. This variant has been reported in two Japanese individuals affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 22214898). One of them was a compound heterozygote who also carried a pathogenic variant c.2489+1G>A in the same gene. This variant has also been identified in 17/277208 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.

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