Submissions for variant NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) (rs200056085)

Total submissions: 16

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,Partners HealthCare 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.
GeneDx	RCV000181132	SCV000233409	benign	Cardiomyopathy	2014-09-25	criteria provided, single submitter	clinical testing	The variant is found in ARVC, ARRHYTHMIA panel(s).
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia	RCV000202657	SCV000258195	benign	Arrhythmogenic right ventricular cardiomyopathy	2015-07-01	criteria provided, single submitter	clinical testing
Invitae	RCV000845558	SCV000290733	benign	not provided	2019-03-05	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	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	Lines of evidence used in support of classification: No disease association in appropriately sized case-control study(ies)
Genome Diagnostics Laboratory,University Medical Center Utrecht	RCV000018343	SCV000743488	benign	Arrhythmogenic right ventricular cardiomyopathy, type 11	2015-12-09	criteria provided, single submitter	clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center	RCV000018343	SCV000744754	benign	Arrhythmogenic right ventricular cardiomyopathy, type 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	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
OMIM	RCV000018343	SCV000038622	uncertain significance	Arrhythmogenic right ventricular cardiomyopathy, type 11	2010-07-01	no assertion criteria provided	literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	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 cardiomyopathy, type 11		no assertion criteria provided	clinical testing