ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg) (rs780469370)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000218605 SCV000271714 uncertain significance not specified 2015-04-13 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Leu563Arg var iant in DSG2 has not been previously reported in individuals with cardiomyopathy , but has been identified in 0.1% (9/8594) East Asian chromosomes by the Exome A ggregation Consortium Sequencing Project (http://exac.broadinstitute.org). Leuci ne (Leu) at position 563 is not conserved in mammals or evolutionarily distant s pecies and the mouse carries arginine (Arg) at this position, raising the possib ility that this change may be tolerated. In summary, while the clinical signific ance of the p.Leu563Arg variant is uncertain, its frequency and the presence of the variant amino acid in another mammal suggests that it is more likely to be b enign.
GeneDx RCV000218605 SCV000532520 likely benign not specified 2016-10-27 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 RCV000587655 SCV000697885 likely benign not provided 2017-03-06 criteria provided, single submitter clinical testing Variant summary: The DSG2 c.1688T>G (p.Leu563Arg) variant involves the alteration of a non-conserved nucleotide. 4/5 in silico tools predict a benign outcome for this variant. This variant was found in 9/120636 control chromosomes, predominantly observed in the East Asian subpopulation at a frequency of 0.001047 (9/8594). This frequency is about 105 times the estimated maximal expected allele frequency of a pathogenic DSG2 variant (0.00001), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. This variant has been reported in a Japanese individual with West syndrome without evidence for causality (Hino-Fukuyo_2015). Another clinical diagnostic laboratory classified this variant as uncertain significance, without evidence for independent evaluation. Taken together, this variant is classified as likely benign.
Invitae RCV000642344 SCV000764013 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-10-27 criteria provided, single submitter clinical testing
Color Health, Inc RCV001188356 SCV001355404 likely benign Cardiomyopathy 2019-05-24 criteria provided, single submitter clinical testing

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