Submissions for variant NM_024422.6(DSC2):c.1350A>G (p.Arg450=)

dbSNP: rs144242114

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039406	SCV000063090	benign	not specified	2012-04-04	criteria provided, single submitter	clinical testing	Arg450Arg in Exon 10 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 0.4% (26/7020) of Europ ean American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs144242114).
GeneDx	RCV000039406	SCV000233404	benign	not specified	2016-02-12	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	RCV000204526	SCV000262233	benign	Arrhythmogenic right ventricular dysplasia 11	2024-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000204526	SCV000743493	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	RCV000204526	SCV000744762	likely benign	Arrhythmogenic right ventricular dysplasia 11	2015-09-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000039406	SCV000885313	likely benign	not specified	2018-10-23	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000029662	SCV000902806	benign	Cardiomyopathy	2018-03-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000757177	SCV001151500	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	DSC2: BP4, BP7
Illumina Laboratory Services, Illumina	RCV000204526	SCV001281725	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000029662	SCV001334027	benign	Cardiomyopathy	2017-11-24	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000204526	SCV002805434	likely benign	Arrhythmogenic right ventricular dysplasia 11	2021-07-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003924865	SCV004744542	benign	DSC2-related disorder	2019-06-06	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000029662	SCV000052314	benign	Cardiomyopathy	2015-10-08	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000204526	SCV000733777	likely benign	Arrhythmogenic right ventricular dysplasia 11		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039406	SCV001922188	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039406	SCV001952967	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000029662	SCV003802732	benign	Cardiomyopathy	2022-10-10	no assertion criteria provided	clinical testing