ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5179A>G (p.Thr1727Ala) (rs762005355)

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 RCV000221195 SCV000271563 uncertain significance not specified 2015-11-12 criteria provided, single submitter clinical testing The p.Thr1727Ala variant in CDH23 has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 1/11490 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu; dbSNP rs762005355). Computational prediction tools and conservation anal ysis suggest that this variant may impact the protein, though this information i s not predictive enough to determine pathogenicity. In summary, the clinical sig nificance of the p.Thr1727Ala variant is uncertain.

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.