ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1718C>T (p.Ala573Val)

gnomAD frequency: 0.00411  dbSNP: rs5972599
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Total submissions: 10
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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 RCV000213171 SCV000268946 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ala573Val in exon 15 of DMD: This variant is not expected to have clinical sig nificance because it has been identified in 1.4% (55/3831) of African American c hromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS/; dbSNP rs5972599).
Ambry Genetics RCV000251049 SCV000318504 benign Cardiovascular phenotype 2017-04-04 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000469616 SCV000560804 benign Duchenne muscular dystrophy 2025-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000213171 SCV001475841 benign not specified 2020-02-13 criteria provided, single submitter clinical testing
GeneDx RCV001722144 SCV001946921 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000213171 SCV004038122 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001722144 SCV005276044 benign not provided criteria provided, single submitter not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001722144 SCV005876178 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000213171 SCV006065911 benign not specified 2025-04-09 criteria provided, single submitter clinical testing BS1;BP1;BP6
Natera, Inc. RCV001828055 SCV002092245 benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-11 no assertion criteria provided clinical testing

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