ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8146C>T (p.Gln2716Ter)

dbSNP: rs1603430178
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
Mendelics RCV000990607 SCV001141622 pathogenic Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000990607 SCV002228830 pathogenic Duchenne muscular dystrophy 2021-01-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Duchenne muscular dystrophy (PMID: 19937601). ClinVar contains an entry for this variant (Variation ID: 803828). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln2716*) in the DMD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885).

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.