ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2886T>G (p.Ile962Met) (rs79229040)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037295 SCV000060952 likely benign not specified 2012-02-09 criteria provided, single submitter clinical testing Ile962Met in exon 15 of DSG2: This variant is not expected to have clinical sign ificance because it is not located within the splice consensus sequence and has been identified in 0.7% (24/3268) of African American chromosomes by the NHLBI E xome Sequencing Project in a broad population (; dbSNP rs79229040). Ile962Met in exon 15 of DSG2 (rs79229040; allele frequency = 0.7%, 24/3268) **
GeneDx RCV000037295 SCV000168250 benign not specified 2013-05-29 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 RCV000231454 SCV000287238 benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617277 SCV000735457 benign Cardiovascular phenotype 2016-07-21 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Color Health, Inc RCV000776293 SCV000911586 benign Cardiomyopathy 2018-06-04 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000037295 SCV001433088 likely benign not specified 2020-02-20 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001530060 SCV001744620 likely benign not provided 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.