ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.4684A>G (p.Arg1562Gly) (rs771425504)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250642 SCV000317528 uncertain significance Cardiovascular phenotype 2019-02-05 criteria provided, single submitter clinical testing Insufficient evidence
GeneDx RCV000608032 SCV000724196 likely benign not specified 2017-11-03 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756023 SCV000883726 likely benign not provided 2017-09-17 criteria provided, single submitter clinical testing The p.Arg1562Gly variant (rs771425504; ClinVar Variation ID: 263352) has not been previously associated with any dystrophinopathy and is listed in the Genome Aggregation Database (gnomAD) browser with a frequency in East Asian populations of 0.13% (identified in 18 out of 13,810 chromosomes including 3 homozygotes). Additionally, this variant affects a moderately conserved amino acid (Alamut software v 2.10), and is not predicted to alter DMD structure function (SIFT: tolerated, PolyPhen2: benign, MutationTaster: polymorphism). Therefore, the p.Arg1562Gly variant is likely to be benign.
Invitae RCV001080748 SCV001002600 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing

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