Submissions for variant NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)

dbSNP: rs200056085

Total submissions: 22

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000039429	SCV000055307	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039429	SCV000063113	benign	not specified	2013-01-14	criteria provided, single submitter	clinical testing	Ala897fs in exon 16 of DSC2: This variant is not expected to have clinical signi ficance because it has been identified in 1.3% (111/8254) of European American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS/). This variant leads to a frameshift starting at pos ition 897 and a subsequent truncation that removes the terminal amino acid of th e DSC2 protein. Although it was initially reported in 3 Caucasian individuals wi th ARVC probands while absent from 400 ethnically matched control alleles, it ha s subsequently been detected in several control cohorts at frequencies that argu e against a disease causing role (0.8%-1.5%, see http://arvcdatabase.info). The overall frequency of this variant strongly argues against a primary disease-caus ing role, although we cannot rule out that it may modify disease severity when p resent with other disease-causing variants.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202657	SCV000258195	benign	Arrhythmogenic right ventricular cardiomyopathy	2015-07-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000018343	SCV000290733	benign	Arrhythmogenic right ventricular dysplasia 11	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000039429	SCV000314303	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000253786	SCV000318356	benign	Cardiovascular phenotype	2013-03-15	criteria provided, single submitter	clinical testing	No disease association in appropriately sized case-control study(ies)
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000018343	SCV000743488	benign	Arrhythmogenic right ventricular dysplasia 11	2015-12-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000018343	SCV000744754	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	RCV000181132	SCV000901975	benign	Cardiomyopathy	2017-05-24	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000181132	SCV000910598	benign	Cardiomyopathy	2018-03-09	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000845558	SCV000987687	benign	not provided		criteria provided, single submitter	clinical testing
GeneDx	RCV000845558	SCV001759515	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000845558	SCV002058047	benign	not provided	2023-10-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000845558	SCV002585677	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	DSC2: BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV000018343	SCV002794951	likely benign	Arrhythmogenic right ventricular dysplasia 11	2021-08-31	criteria provided, single submitter	clinical testing
Molecular Genetics, Royal Melbourne Hospital	RCV003993761	SCV004812737	benign	Familial isolated arrhythmogenic right ventricular dysplasia	2023-07-07	criteria provided, single submitter	clinical testing
OMIM	RCV000018343	SCV000038622	uncertain significance	Arrhythmogenic right ventricular dysplasia 11	2010-07-01	no assertion criteria provided	literature only
Eurofins Ntd Llc (ga)	RCV000039429	SCV000114145	benign	not specified	2013-05-31	no assertion criteria provided	clinical testing
Blueprint Genetics	RCV000157178	SCV000206902	benign	Primary familial hypertrophic cardiomyopathy	2013-11-08	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000018343	SCV000733770	benign	Arrhythmogenic right ventricular dysplasia 11		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039429	SCV001925246	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039429	SCV001955337	benign	not specified		no assertion criteria provided	clinical testing