ClinVar Miner

Submissions for variant NM_001353214.3(DYM):c.947-2A>G

dbSNP: rs567638775
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
Institute of Human Genetics, University of Leipzig Medical Center RCV001262584 SCV001440511 pathogenic Dyggve-Melchior-Clausen syndrome 2019-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004035398 SCV004107924 likely pathogenic DYM-related disorder 2023-01-09 criteria provided, single submitter clinical testing The DYM c.947-2A>G variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. To our knowledge, this variant has not been reported in the literature or a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Variants that disrupt the consensus splice acceptor site in DYM are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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.