ClinVar Miner

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

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 16
Download table as spreadsheet
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 RCV000018343 SCV000290733 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2019-12-31 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 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.