ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3990-1G>A

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004726499 SCV005335981 pathogenic CHD7-related disorder 2024-09-24 no assertion criteria provided clinical testing The CHD7 c.3990-1G>A variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. This variant has been reported as a de novo occurrence in an individual with CHARGE syndrome (Bilan et al. 2012. PubMed ID: 22033296). This variant has not been reported in a large population database, indicating this variant is rare. Variants that disrupt the consensus splice acceptor site in CHD7 are expected to be pathogenic. This variant is interpreted as 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.