Submissions for variant NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys)

gnomAD frequency: 0.00406  dbSNP: rs2230232

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000037292	SCV000054846	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037292	SCV000060949	benign	not specified	2012-04-17	criteria provided, single submitter	clinical testing	Tyr89Cys in Exon 04 of DSG2: This variant is not expected to have clinical signi ficance because it has been identified in 1.0% (30/2916) of African American chr omosomes from a broad population by the NHLBI Exome Sequencing Project (http://e vs.gs.washington.edu/EVS; dbSNP rs2230232).
Invitae	RCV000472203	SCV000561388	benign	Arrhythmogenic right ventricular dysplasia 10	2024-01-31	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770542	SCV000901989	benign	Cardiomyopathy	2017-02-14	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000770542	SCV000904563	benign	Cardiomyopathy	2018-07-02	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000770542	SCV000995455	benign	Cardiomyopathy	2017-03-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000472203	SCV001286849	likely benign	Arrhythmogenic right ventricular dysplasia 10	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001682731	SCV001471742	likely benign	not provided	2020-08-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001682731	SCV001898139	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037292	SCV001920496	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037292	SCV001957617	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037292	SCV001970354	benign	not specified		no assertion criteria provided	clinical testing