ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1280+4AG[3] (rs876657791)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000223330 SCV000271712 uncertain significance not specified 2015-04-13 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.1280+4AG[3] ( also reported as c.1280+4_1280+5delAG) variant in DSG2 has not been previously r eported in individuals with cardiomyopathy, but has been identified in 0.2% (19/ 8616) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http: // This variant results in a deletion of one dinucleoti de repeat in the 5' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out path ogenicity. In summary, while the clinical significance of the c.1280+4AG[3] vari ant is uncertain, its frequency suggests that it is more likely to be benign.
Illumina Clinical Services Laboratory,Illumina RCV000377305 SCV000408226 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266431 SCV000408227 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000223330 SCV000570740 likely benign not specified 2016-06-24 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590706 SCV000697881 likely benign not provided 2017-03-06 criteria provided, single submitter clinical testing Variant summary: The DSG2 c.1280+10_1280+11delAG variant involves the alteration of an intronic nucleotide, which 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 19/120602 control chromosomes, predominantly observed in the East Asian subpopulation at a frequency of 0.002206 (19/8612). This frequency is about 221 times the estimated maximal expected allele frequency of a pathogenic DSG2 variant (0.00001), suggesting this is likely a benign polymorphism found primarily in population(s) of East Asian origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance, without additional information to perform an independent evaluation. Therefore, the variant of interest has been classified as "likely benign."
Invitae RCV001078612 SCV000764004 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-10-27 criteria provided, single submitter clinical testing
Color Health, Inc RCV001184745 SCV001350801 benign Cardiomyopathy 2018-12-03 criteria provided, single submitter clinical testing

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