Submissions for variant NM_001005242.3(PKP2):c.1116T>C (p.Ala372=)

gnomAD frequency: 0.00423  dbSNP: rs142742483

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038147	SCV000061813	benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Ala372Ala in Exon 04 of PKP2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence and has been identified in 1.2% (45/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs142742483).
GeneDx	RCV000038147	SCV000171012	benign	not specified	2014-03-26	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000234367	SCV000288587	benign	Arrhythmogenic right ventricular dysplasia 9	2024-01-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000234367	SCV000378462	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000234367	SCV000744705	benign	Arrhythmogenic right ventricular dysplasia 9	2017-06-28	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771260	SCV000903373	benign	Cardiomyopathy	2018-03-08	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000771260	SCV001332779	benign	Cardiomyopathy	2019-04-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002510775	SCV002821691	benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	PKP2: BP4, BP7, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000234367	SCV003799220	benign	Arrhythmogenic right ventricular dysplasia 9	2022-06-30	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996363	SCV004846429	benign	Arrhythmogenic right ventricular cardiomyopathy	2024-02-05	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038147	SCV001919913	benign	not specified		no assertion criteria provided	clinical testing