ClinVar Miner

Submissions for variant NM_022124.5(CDH23):c.[7762G>C;7764G>T]

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 RCV000612673 SCV000731445 uncertain significance not specified 2017-01-24 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Glu2588His va riant in CDH23 results from the benign c.7762G>C variant and the c.7764G>T varia nt of uncertain significance. These two single nucleotide variants were determi ned to be in cis using NGS read data, and they affect the same codon, resulting in a glutamic acid to a histidine alteration at position 2588. The c.7762G>C va riant is present in 2.9% (283/9860) of South Asian chromosomes by the Exome Aggr egation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs41281338); how ever, the c.7764G>T variant has not been identified in large population studies. The glutamic acid at position 2588 is not conserved through mammals or evolutio nary distant species, with >10 bird species having a histidine at this position. In summary, while the clinical significance of the p.Glu2588His variant is unc ertain, the conservation data suggest that it is more likely to be benign.

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.