ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.473T>G (p.Val158Gly) (rs191143292)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 13
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 RCV000148470 SCV000051527 benign Arrhythmogenic right ventricular cardiomyopathy 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037307 SCV000060964 benign not specified 2017-10-11 criteria provided, single submitter clinical testing p.Val158Gly in exon 5 of DSG2: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence and has been identified in 0.8% (212/25742) of Finnish chromosomes by the Genome Aggreg ation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs191143292). AC MG/AMP Criteria applied: BA1 (Richards 2015).
GeneDx RCV000037307 SCV000168233 benign not specified 2012-05-01 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.
CSER _CC_NCGL, University of Washington RCV000211473 SCV000212209 likely benign Arrhythmogenic right ventricular dysplasia, familial 1 2015-03-11 criteria provided, single submitter research
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000037307 SCV000231023 likely benign not specified 2015-03-18 criteria provided, single submitter clinical testing
Invitae RCV001081252 SCV000262068 benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000250164 SCV000318919 benign Cardiovascular phenotype 2015-11-20 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589551 SCV000697889 benign not provided 2016-01-26 criteria provided, single submitter clinical testing Variant summary: This c.473T>G variant affects a conserved nucleotide, resulting in amino acid change from Val to Gly. 3/4 in-silico tools predict this variant to be damaging; however, results from in silico prediction are not definitive. This variant was found in 674/124228 control chromosomes including the broad and large populations from ExAC at a frequency of 0.0054255, which is more than 216 times greater than the maximal expected frequency of a pathogenic allele (0.000025) in this gene, suggesting this variant is benign. In addition, three homozygotes have also been reported from the European (Non-Finnish) population from ExAC, further supporting its benign outcome for the dominant disorders associated with this gene. This variant has been reported in literature in many patients with varying cardiological phenotypes, namely ARVD, DCM, Brugada Syndrome, and Arrhythmia; however, without strong evidence for causality. Rather, this variant was reported to co-occur with DSG2 R46Q and PKP2 p.L452X, supporting for a benign outcome. The variant has also been reported in an unaffected relative of an ARVD family, suggesting a lack of cosegregation (Syrris_2007). Multiple clinical labs have classified this variant as benign/likely benign. Taken together, this variant has been classified as Benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000037307 SCV000883745 benign not specified 2018-08-27 criteria provided, single submitter clinical testing
Color Health, Inc RCV000771099 SCV000902737 benign Cardiomyopathy 2018-04-09 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000148470 SCV000987331 benign Arrhythmogenic right ventricular cardiomyopathy criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852740 SCV000995456 benign Primary dilated cardiomyopathy; Cardiomyopathy 2019-06-11 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148470 SCV000190170 likely benign Arrhythmogenic right ventricular cardiomyopathy 2014-06-01 no assertion criteria provided research

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.