ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2701G>A (p.Glu901Lys)

dbSNP: rs876657636
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, Mass General Brigham Personalized Medicine RCV000220607 SCV000271210 likely pathogenic Rare genetic deafness 2015-11-05 criteria provided, single submitter clinical testing The p.Glu901Lys variant in CDH23 has not been previously reported in individuals with hearing loss or Usher syndrome and was absent from large population studie s. Computational prediction tools and conservation analyses suggest that the p.G lu901Lys variant may impact the protein. This variant is found to be likely in t rans with a pathogenic variant in an individual with hearing loss, which increas es the likelihood that the p.Glu901Lys variant is pathogenic. In summary, althou gh additional studies are required to fully establish its clinical significance, this variant is 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.