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

gnomAD frequency: 0.00252  dbSNP: rs150821281

Total submissions: 22

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, Mass General Brigham 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
Eurofins Ntd Llc (ga)	RCV000724017	SCV000229051	uncertain significance	not provided	2015-01-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000724017	SCV000236203	likely benign	not provided	2021-02-08	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25637381, 26681313, 26264440, 15489853, 19095136, 20400443, 19955750, 21859740, 24055113, 23299917, 21606390, 20716751, 20857253, 19358943, 20031617, 17556197, 16549640, 16415378, 20152563, 18508782, 25016126, 26332594, 19569224, 25910212, 25569433, 27153395, 23270881, 26383259, 31402444)
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	This alteration is classified as likely 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.
Invitae	RCV000476990	SCV000557329	likely benign	Arrhythmogenic right ventricular dysplasia 9	2024-02-01	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 dysplasia 9	2016-03-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000476990	SCV000744714	uncertain significance	Arrhythmogenic right ventricular dysplasia 9	2015-09-21	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769395	SCV000900787	benign	Cardiomyopathy	2019-11-20	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	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 dysplasia 9	2022-10-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000476990	SCV001271393	uncertain significance	Arrhythmogenic right ventricular dysplasia 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.
CeGaT Center for Human Genetics Tuebingen	RCV000724017	SCV002821693	benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	PKP2: BP4, BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000476990	SCV000733169	likely benign	Arrhythmogenic right ventricular dysplasia 9		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038218	SCV001918332	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038218	SCV001959039	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724017	SCV001966362	likely benign	not provided		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000769395	SCV003803065	likely benign	Cardiomyopathy	2022-09-23	no assertion criteria provided	clinical testing