ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7725G>A (p.Leu2575=)

gnomAD frequency: 0.00008  dbSNP: rs754604466
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431840 SCV000529915 likely benign not specified 2016-07-19 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000468698 SCV000560801 likely benign Duchenne muscular dystrophy 2025-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298443 SCV003990566 likely benign Cardiovascular phenotype 2024-11-11 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. RCV001828427 SCV002087734 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-07-24 no assertion criteria provided clinical testing

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