ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) (rs139851304)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000038142 SCV000051591 benign not specified 2013-06-24 criteria provided, single submitter research
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).
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.
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
Invitae RCV000230443 SCV000288586 benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000230443 SCV000378464 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Ambry Genetics RCV000618818 SCV000736010 benign Cardiovascular phenotype 2017-03-22 criteria provided, single submitter clinical testing 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
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
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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000038142 SCV001433420 benign not specified 2019-08-20 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157409 SCV000207148 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-08-01 no assertion criteria provided clinical testing

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