ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4458T>A (p.Pro1486=)

gnomAD frequency: 0.00001  dbSNP: rs775097950
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000870131 SCV001011609 likely benign Duchenne muscular dystrophy 2025-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332815 SCV002634245 likely benign Cardiovascular phenotype 2020-09-30 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.
Natera, Inc. RCV001830912 SCV002085322 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-22 no assertion criteria provided clinical testing

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