ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10223+4A>G

dbSNP: rs2148290215
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 RCV002249867 SCV002519496 pathogenic Becker muscular dystrophy 2022-05-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529109 SCV004106979 uncertain significance DMD-related disorder 2023-07-29 criteria provided, single submitter clinical testing The DMD c.10223+4A>G variant is predicted to interfere with splicing. In an alternate transcript, this variant leads to protein extension through removal of the stop codon (NM_004019.2:c.1023A>G (p.*341Trpext*11)). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. It is interpreted as pathogenic by a single submission in ClinVar; however, no supporting evidence was provided (preview.ncbi.nlm.nih.gov/clinvar/variation/1685700/). Numerous other splicing variants have been reported as causative at this splice junction in the Human Gene Mutation Database (HGMD) and Leiden Open Variation Database (LOVD), including many outside of the canonical splice site, at the +3, +5, and +6 positions (HGMD; LOVD; Neri et al. 2020. PubMed ID: 32194622). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.