ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) (rs150821281)

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Total submissions: 17
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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 RCV000148729 SCV000051419 likely benign Arrhythmogenic right ventricular cardiomyopathy 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038218 SCV000061886 likely benign not specified 2015-06-30 criteria provided, single submitter clinical testing p.Ser140Phe in exon 3 of PKP2: This variant is not expected to have clinical sig nificance because it has been identified in 0.3% (219/66346) of European chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs150821281).
CSER _CC_NCGL, University of Washington RCV000148729 SCV000190463 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2014-06-01 criteria provided, single submitter research Allele frequency may indicate a low penetrance or likely benign variant
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724017 SCV000229051 uncertain significance not provided 2015-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000038218 SCV000236203 likely benign not specified 2017-09-21 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.
Blueprint Genetics RCV000038218 SCV000264140 likely benign not specified 2015-04-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000249594 SCV000319537 likely benign Cardiovascular phenotype 2018-11-09 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Invitae RCV000476990 SCV000557329 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-12-31 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000038218 SCV000740395 likely benign not specified 2017-05-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000476990 SCV000743459 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2016-03-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000476990 SCV000744714 uncertain significance 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 RCV000769395 SCV000900787 likely benign Cardiomyopathy 2017-04-18 criteria provided, single submitter clinical testing
Color RCV000769395 SCV000910782 likely benign Cardiomyopathy 2018-03-13 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000769395 SCV000995388 likely benign Cardiomyopathy 2018-06-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000476990 SCV001157923 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-09-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000476990 SCV001271393 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-03-12 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000476990 SCV000733169 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 no assertion criteria provided clinical testing

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