ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1837A>T (p.Lys613Ter)

dbSNP: rs1302764635
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001202089 SCV001373188 pathogenic Duchenne muscular dystrophy 2019-06-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys613*) in the DMD gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with Duchenne muscular dystrophy (PMID: 30833962). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV001264117 SCV001442217 likely pathogenic Becker muscular dystrophy; Duchenne muscular dystrophy 2019-02-19 criteria provided, single submitter 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.