ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9278+2dup (rs727502935)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150329 SCV000197425 uncertain significance not specified 2013-09-29 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The 9278+2_9278 +3insT variant in CDH23 has not been reported in individuals with hearing loss o r in large population studies. This variant occurs in the 5? splice site and cau ses a divergence from the splice consensus sequence. In addition, computational tools predict altered splicing leading to an abnormal or absent protein. However , additional data is needed to confirm the impact of this variant on the normal splicing of the CDH23 gene. In summary, the clinical significance of this varian t cannot be determined with certainty; however, based upon the change to the spl ice consensus sequence caused by this variant and the computational predictions, we lean towards a more likely pathogenic role.

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.