Submissions for variant NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile)

gnomAD frequency: 0.01900  dbSNP: rs75909145

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000038197	SCV000051585	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038197	SCV000061864	benign	not specified	2012-02-06	criteria provided, single submitter	clinical testing	Ser70Ile in exon 1 of PKP2: This variant is classified as benign based on its hi gh frequency in the general population (NHLBI Exome sequencing project, http://e vs.gs.washington.edu/EVS).
Eurofins Ntd Llc (ga)	RCV000038197	SCV000224452	benign	not specified	2014-12-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000206028	SCV000261952	benign	Arrhythmogenic right ventricular dysplasia 9	2025-02-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000038197	SCV000310494	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000242206	SCV000318070	benign	Cardiovascular phenotype	2014-12-08	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	RCV000206028	SCV000378474	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000206028	SCV000743462	benign	Arrhythmogenic right ventricular dysplasia 9	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000206028	SCV000744716	benign	Arrhythmogenic right ventricular dysplasia 9	2015-09-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000776016	SCV000910563	benign	Cardiomyopathy	2018-03-13	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000206028	SCV001157056	benign	Arrhythmogenic right ventricular dysplasia 9	2023-10-26	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000038197	SCV001433413	likely benign	not specified	2019-06-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001618229	SCV001845155	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28472724, 21606390, 20031617, 19955750)
All of Us Research Program, National Institutes of Health	RCV003996378	SCV004844468	benign	Arrhythmogenic right ventricular cardiomyopathy	2024-02-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001618229	SCV005216627	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000206028	SCV000733171	benign	Arrhythmogenic right ventricular dysplasia 9		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038197	SCV001917086	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038197	SCV001952072	benign	not specified		no assertion criteria provided	clinical testing