ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4175A>G (p.Gln1392Arg)

gnomAD frequency: 0.00001  dbSNP: rs876657779
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000221987 SCV000271663 uncertain significance not specified 2015-08-24 criteria provided, single submitter clinical testing The p.Gln1392Arg variant in DMD has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. In summary, the clinical significance of the p.Gln1392Arg variant is uncertain.
Natera, Inc. RCV001828074 SCV002085354 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-06-25 no assertion criteria provided clinical testing

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