ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr)

gnomAD frequency: 0.00016  dbSNP: rs201302282
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000222591 SCV000230517 likely benign not specified 2016-03-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000222591 SCV000271669 uncertain significance not specified 2015-09-10 criteria provided, single submitter clinical testing The p.Ala1901Thr variant in DMD has not been previously reported in individuals with cardiomyopathy, but has been identified in 14/47910 European chromosomes (i ncluding 6 hemizygotes) by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; rs201302282). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Ala1901Thr variant is uncertain.
GeneDx RCV001719984 SCV000532232 benign not provided 2020-09-22 criteria provided, single submitter clinical testing
Invitae RCV000459519 SCV000560857 benign Duchenne muscular dystrophy 2024-01-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000222591 SCV000603368 uncertain significance not specified 2017-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617904 SCV000735569 likely benign Cardiovascular phenotype 2019-11-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Genetics and Genomics Program, Sidra Medicine RCV000157167 SCV001434172 likely benign Primary dilated cardiomyopathy criteria provided, single submitter research
Blueprint Genetics RCV000157167 SCV000206891 uncertain significance Primary dilated cardiomyopathy 2014-09-29 no assertion criteria provided clinical testing

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