ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1070G>A (p.Arg357His) (rs201201194)

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Total submissions: 4
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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 RCV000171892 SCV000050899 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000181148 SCV000233425 likely benign not specified 2018-03-15 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.
Integrated Genetics/Laboratory Corporation of America RCV000181148 SCV000917283 likely benign not specified 2018-11-15 criteria provided, single submitter clinical testing Variant summary: DSC2 c.1070G>A (p.Arg357His) results in a non-conservative amino acid change located in the Cadherin-like domain of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00021 in 276774 control chromosomes (gnomAD). The observed variant frequency is approximately 8-fold of the estimated maximal expected allele frequency for a pathogenic variant in DSC2 causing Cardiomyopathy phenotype (2.5e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.1070G>A in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Invitae RCV000473895 SCV000561705 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2016-09-20 criteria provided, single submitter clinical testing

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