ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp)

gnomAD frequency: 0.00677  dbSNP: rs146708884
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Total submissions: 16
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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 RCV000038182 SCV000051587 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038182 SCV000061849 benign not specified 2015-05-01 criteria provided, single submitter clinical testing p.Glu58Asp in exon 1 of PKP2: This variant is not expected to have clinical sign ificance because it was detected in 6.3% (284/4446) Finnish chromosomes, includi ng 5 homozygotes, and 0.7% (377/51932) of European chromosomes by the Exome Aggr egation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs146708884).
GeneDx RCV000038182 SCV000171018 benign not specified 2013-08-09 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 RCV001084671 SCV000288599 benign Arrhythmogenic right ventricular dysplasia 9 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000250199 SCV000318696 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: 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.
Eurofins Ntd Llc (ga) RCV000038182 SCV000332414 benign not specified 2015-06-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001084671 SCV000378476 likely benign Arrhythmogenic right ventricular dysplasia 9 2018-01-12 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.
Color Diagnostics, LLC DBA Color Health RCV000771123 SCV000902860 benign Cardiomyopathy 2018-03-13 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000845407 SCV000987472 benign not provided criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001084671 SCV001477653 benign Arrhythmogenic right ventricular dysplasia 9 2021-02-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000845407 SCV003917200 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing PKP2: BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000845407 SCV001742540 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000038182 SCV001918047 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000845407 SCV001930908 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000038182 SCV001952489 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000038182 SCV001963807 benign not specified no assertion criteria provided clinical testing

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