Submissions for variant NM_024422.6(DSC2):c.351A>G (p.Thr117=)

gnomAD frequency: 0.00832  dbSNP: rs117812913

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039431	SCV000063115	benign	not specified	2012-05-23	criteria provided, single submitter	clinical testing	Thr117Thr in Exon 03 of DSC2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 1.2% (81/7016) of Europ ean American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs117812913).
Invitae	RCV000231054	SCV000290738	benign	Arrhythmogenic right ventricular dysplasia 11	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000251164	SCV000317986	benign	Cardiovascular phenotype	2015-05-18	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.
Illumina Laboratory Services, Illumina	RCV000231054	SCV000408105	likely benign	Arrhythmogenic right ventricular dysplasia 11	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000231054	SCV000743498	likely benign	Arrhythmogenic right ventricular dysplasia 11	2014-10-10	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000231054	SCV000744770	benign	Arrhythmogenic right ventricular dysplasia 11	2015-09-21	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769501	SCV000900896	benign	Cardiomyopathy	2016-03-18	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769501	SCV000902652	benign	Cardiomyopathy	2018-03-08	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000039431	SCV001433299	benign	not specified	2019-08-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001719759	SCV001473013	benign	not provided	2023-11-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001719759	SCV001948774	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001719759	SCV002498358	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	DSC2: BP4, BP7, BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000231054	SCV000733780	benign	Arrhythmogenic right ventricular dysplasia 11		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039431	SCV001921440	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039431	SCV001952233	benign	not specified		no assertion criteria provided	clinical testing