ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2365_2367GGA[1] (p.Gly790del) (rs377272752)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000626335 SCV000054840 benign Cardiomyopathy, arrhythmogenic right ventricular dysplasia 2018-04-05 criteria provided, single submitter research
GeneDx RCV000215675 SCV000233450 benign not specified 2017-02-22 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000215675 SCV000269038 benign not specified 2015-04-23 criteria provided, single submitter clinical testing p.Gly790del in exon 15 of DSC2: This variant is not expected to have clinical si gnificance because it has been identified in 1.8% (153/8642) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs377272752).
Ambry Genetics RCV000253898 SCV000318187 uncertain significance Cardiovascular phenotype 2013-01-04 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000472144 SCV000561699 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2019-12-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000472144 SCV000743490 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2016-12-08 criteria provided, single submitter clinical testing
Color RCV000771253 SCV000903356 benign Cardiomyopathy 2018-03-16 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852736 SCV000995451 likely benign Hypertrophic cardiomyopathy 2018-05-08 criteria provided, single submitter clinical testing
Mendelics RCV000472144 SCV001140866 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 11 2019-05-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000771253 SCV001333448 benign Cardiomyopathy 2018-03-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000215675 SCV001361047 benign not specified 2019-02-06 criteria provided, single submitter clinical testing Variant summary: DSC2 c.2368_2370delGGA (p.Gly790del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant allele was found at a frequency of 0.0013 in 276824 control chromosomes, predominantly at a frequency of 0.018 within the East Asian subpopulation in the gnomAD database, including 6 homozygotes. The observed variant frequency within East Asian control individuals in the gnomAD database is approximately 110 fold of the estimated maximal expected allele frequency for a pathogenic variant in DSC2 causing Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy phenotype (0.00016), strongly suggesting that the variant is a benign polymorphism found primarily in populations of East Asian origin. c.2368_2370delGGA has been reported in the literature in affected individuals, where in several reports the affected patients were of East Asian origin (e.g. Hata_2017, Ichikawa_2016, Gerhardt_2015, Ng_2013, Fressart_2010). These reports do not provide unequivocal conclusions about association of the variant with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. ClinVar submissions from four clinical diagnostic laboratories and one research laboratory (evaluation after 2014) cite the variant as benign (4x) and likely benign (1x). Based on the evidence outlined above, the variant was classified as benign.
Blueprint Genetics RCV000157177 SCV000206901 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2014-03-17 no assertion criteria provided clinical testing

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