ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5181A>T (p.Ile1727=)

gnomAD frequency: 0.00038  dbSNP: rs200887855
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723693 SCV000112547 uncertain significance not provided 2016-07-11 criteria provided, single submitter clinical testing
GeneDx RCV000723693 SCV000520494 likely benign not provided 2018-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081480 SCV000560836 benign Duchenne muscular dystrophy 2024-01-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000080645 SCV001365653 benign not specified 2019-04-17 criteria provided, single submitter clinical testing The p.Ile1727Ile variant in DMD is classified as benign because it has been identified in 0.05% (14/27930) of Latino chromosomes and 20 hemizygotes by gnomAD (http://gnomad.broadinstitute.org). In addition, it does not alter an amino acid residue, it is not located within the splice consensus sequence, and splice prediction algorithms do not predict a newly created splice site. ACMG/AMP Criteria applied: BA1, BP4, BP7.
Genome-Nilou Lab RCV001081480 SCV001716338 benign Duchenne muscular dystrophy 2021-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336233 SCV002643724 benign Cardiovascular phenotype 2018-10-03 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.
CeGaT Center for Human Genetics Tuebingen RCV000723693 SCV004700439 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing DMD: BP4, BP7, BS2
Natera, Inc. RCV001831856 SCV002093530 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-04-10 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.