Submissions for variant NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser)

gnomAD frequency: 0.00189  dbSNP: rs62001015

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172584	SCV000054797	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038224	SCV000061892	likely benign	not specified	2017-05-18	criteria provided, single submitter	clinical testing	p.Ala236Ser in exon 3 of PKP2: This variant is not expected to have clinical sig nificance because it has been identified in 0.6% (147/24028) of African chromoso mes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org /; dbSNP rs62001015).
GeneDx	RCV000172584	SCV000236177	likely benign	not provided	2020-09-25	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23861362, 24503780)
Invitae	RCV001085858	SCV000288608	benign	Arrhythmogenic right ventricular dysplasia 9	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001085858	SCV000378468	likely benign	Arrhythmogenic right ventricular dysplasia 9	2018-01-13	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.
Ambry Genetics	RCV000617766	SCV000736808	benign	Cardiovascular phenotype	2017-04-05	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.
Color Diagnostics, LLC DBA Color Health	RCV001187311	SCV001354078	benign	Cardiomyopathy	2018-04-13	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001085858	SCV001474051	benign	Arrhythmogenic right ventricular dysplasia 9	2023-10-16	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001187311	SCV002043323	benign	Cardiomyopathy	2019-05-13	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038224	SCV001919164	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000172584	SCV001929187	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000172584	SCV001960159	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000172584	SCV001963952	likely benign	not provided		no assertion criteria provided	clinical testing