Submissions for variant NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn)

gnomAD frequency: 0.00716  dbSNP: rs143004808

Total submissions: 24

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000148725	SCV000051586	benign	Arrhythmogenic right ventricular cardiomyopathy	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038225	SCV000061893	benign	not specified	2015-03-18	criteria provided, single submitter	clinical testing	p.Asp26Asn in exon 1 of PKP2: This variant is not expected to have clinical sign ificance because it has been identified in 2.3% (349/15114) of European chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs143004808).
Eurofins Ntd Llc (ga)	RCV000038225	SCV000203289	likely benign	not specified	2014-01-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000428217	SCV000236185	benign	not provided	2018-12-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24055113, 19955750, 25637381, 27153395, 16567567, 24352520, 19597050, 23299917, 20400443, 20829228, 27884173, 26656175, 26332594)
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000038225	SCV000257987	likely benign	not specified	2015-07-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000038225	SCV000310498	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000246635	SCV000319010	benign	Cardiovascular phenotype	2015-06-11	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina	RCV000472012	SCV000378478	likely benign	Arrhythmogenic right ventricular dysplasia 9	2018-03-06	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000428217	SCV000510739	likely benign	not provided	2016-07-22	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Invitae	RCV000472012	SCV000557331	benign	Arrhythmogenic right ventricular dysplasia 9	2024-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000472012	SCV000743465	benign	Arrhythmogenic right ventricular dysplasia 9	2015-12-18	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000472012	SCV000744719	benign	Arrhythmogenic right ventricular dysplasia 9	2015-09-21	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000038225	SCV000747922	benign	not specified	2017-04-03	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000776026	SCV000910597	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	RCV000852680	SCV000995389	benign	Cardiomyopathy; Hypertrophic cardiomyopathy	2019-05-28	criteria provided, single submitter	clinical testing
Mendelics	RCV000472012	SCV001138685	benign	Arrhythmogenic right ventricular dysplasia 9	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000472012	SCV001159090	benign	Arrhythmogenic right ventricular dysplasia 9	2023-11-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000428217	SCV002545023	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	PKP2: BS1, BS2
CSER _CC_NCGL, University of Washington	RCV000148725	SCV000190457	likely benign	Arrhythmogenic right ventricular cardiomyopathy	2014-06-01	no assertion criteria provided	research
Stanford Center for Inherited Cardiovascular Disease, Stanford University	RCV000038225	SCV000280417	benign	not specified	2011-12-08	no assertion criteria provided	clinical testing	Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000472012	SCV000733173	benign	Arrhythmogenic right ventricular dysplasia 9		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038225	SCV001919880	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038225	SCV001955687	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000776026	SCV003803063	likely benign	Cardiomyopathy	2022-09-23	no assertion criteria provided	clinical testing