ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1503A>G (p.Glu501=)

gnomAD frequency: 0.00004  dbSNP: rs770464589
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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, Mass General Brigham Personalized Medicine RCV000219237 SCV000270124 likely benign not specified 2015-04-08 criteria provided, single submitter clinical testing p.Glu501Glu in exon 13 of DMD: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 6/45495 European ch romosomes, including 2 hemizygotes, by the Exome Aggregation Consortium (ExAC, h ttp://exac.broadinstitute.org).
GeneDx RCV001697284 SCV000533163 benign not provided 2020-05-19 criteria provided, single submitter clinical testing
Invitae RCV000461573 SCV000560849 likely benign Duchenne muscular dystrophy 2024-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000219237 SCV000613106 benign not specified 2017-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390570 SCV002699425 likely benign Cardiovascular phenotype 2018-10-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003897466 SCV004717107 likely benign DMD-related condition 2023-06-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001833182 SCV002090361 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2017-04-20 no assertion criteria provided clinical testing

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