ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4498T>A (p.Ser1500Thr)

gnomAD frequency: 0.00014  dbSNP: rs375641853
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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 RCV000039182 SCV000062866 uncertain significance not specified 2011-06-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ser1500Thr vari ant in CDH23 has not been reported in the literature nor previously identified b y our laboratory. This residue is not highly conserved in mammals and computatio nal analyses (PolyPhen2, SIFT, AlignGVGD) do not suggest a high likelihood of im pact to the protein. However, this information is not predictive enough to rule out pathogenicity. It should be noted that this lab has only sequenced CDH23 in 15 Black probands and no Black healthy controls. In addition, healthy control in formation is limited in either public databases or scientific literature, such t hat the full spectrum of benign variation has not yet been defined for this gene . Future analysis could reveal that the Leu2009His variant is common in this pop ulation and therefore unlikely to be pathogenic. In summary, the clinical signif icance of this variant cannot be determined with certainty at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001246417 SCV001419771 likely benign not provided 2024-03-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826571 SCV002087445 uncertain significance Usher syndrome type 1 2019-10-28 no assertion criteria provided clinical testing

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.