ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1012A>G (p.Thr338Ala) (rs139851304)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618818 SCV000736010 benign Cardiovascular phenotype 2017-03-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000038142 SCV000051591 benign not specified 2013-06-24 criteria provided, single submitter research
Blueprint Genetics RCV000157409 SCV000207148 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-08-01 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770420 SCV000901863 likely benign Cardiomyopathy 2016-08-02 criteria provided, single submitter clinical testing
Color RCV000770420 SCV000902717 benign Cardiomyopathy 2018-03-13 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000230443 SCV000744707 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2015-09-21 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203083 SCV000257985 likely benign Arrhythmogenic right ventricular cardiomyopathy 2015-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000038142 SCV000236181 likely benign not specified 2017-08-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000203083 SCV000378464 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000230443 SCV000288586 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-01-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038142 SCV000061808 benign not specified 2015-03-18 criteria provided, single submitter clinical testing p.Thr338Ala in exon 3 of PKP2: This variant is not expected to have clinical sig nificance due its presence in the general population and a lack of evolutionary conservation (multiple mammals carry an alanine (Ala) at this position despite h igh nearby amino acid conservation). This variant has also been identified in 0. 3% (192/65422) of European chromosomes by the Exome Aggregation Consortium (ExAC , http://exac.broadinstitute.org; dbSNP rs139851304).

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