ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1573G>A (p.Ala525Thr)

gnomAD frequency: 0.00002  dbSNP: rs754158494
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591078 SCV000701624 uncertain significance not provided 2016-09-29 criteria provided, single submitter clinical testing
GeneDx RCV000591078 SCV001795057 likely benign not provided 2021-06-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533)
Ambry Genetics RCV002395514 SCV002703576 likely benign Cardiovascular phenotype 2024-06-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002532367 SCV003299462 likely benign Duchenne muscular dystrophy 2024-08-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000591078 SCV003830037 uncertain significance not provided 2021-01-25 criteria provided, single submitter clinical testing

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