ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2557T>C (p.Leu853=)

gnomAD frequency: 0.00009  dbSNP: rs150387101
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420864 SCV000527220 likely benign not specified 2016-04-28 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 RCV001521073 SCV001730330 benign Duchenne muscular dystrophy 2024-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429408 SCV002742991 likely benign Cardiovascular phenotype 2022-05-02 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.
Breakthrough Genomics, Breakthrough Genomics RCV004703965 SCV005209199 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001833543 SCV002089710 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-05-01 no assertion criteria provided clinical testing

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