ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1114G>C (p.Ala372Pro) (rs200586695)

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Total submissions: 10
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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 RCV000172582 SCV000051038 likely benign Arrhythmogenic right ventricular cardiomyopathy 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038146 SCV000061812 uncertain significance not specified 2014-03-14 criteria provided, single submitter clinical testing The Ala372Pro in PKP2 has been reported in six probands with ARVC (den Haan 2009 , Xu 2010, Gehmlich 2011, Quarta 2011, LMM unpublished data), two of whom carrie d another variant likely to explain disease (Xu 2010 and Gehmlich 2011). This va riant has also been identified in 0.07% (6/8600) European American chromosomes b y the NHLBI Exome Sequencing Project (; dbSNP rs2005 86695). Computational prediction tools and conservation analyses suggest that th is variant may be benign though their accuracy is unknown. Additional studies ar e needed to fully assess its clinical significance.
GeneDx RCV000038146 SCV000236213 likely benign not specified 2017-06-16 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.
Invitae RCV000474453 SCV000557320 likely benign not provided 2019-02-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000038146 SCV000604840 likely benign not specified 2017-03-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620638 SCV000735413 uncertain significance Cardiovascular phenotype 2017-06-16 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;Subpopulation frequency in support of benign classification;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770419 SCV000901862 likely benign Cardiomyopathy 2017-09-14 criteria provided, single submitter clinical testing
Color RCV000770419 SCV000903369 likely benign Cardiomyopathy 2018-06-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000474453 SCV001148699 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157412 SCV000207151 benign Primary familial hypertrophic cardiomyopathy 2013-11-08 no assertion criteria provided clinical testing

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