ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8283C>G (p.Asn2761Lys)

dbSNP: rs397517357
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 RCV000039283 SCV000062967 uncertain significance not specified 2010-08-19 criteria provided, single submitter clinical testing The Asn2761Lys variant in the CDH23 gene has not been reported in the literature nor previously identified by our laboratory. The Asn (Asparagine) residue is co nserved across mammals and chicken and computational analyses (PolyPhen, SIFT, A lignGVGD) suggest that the Lys (Lysine) variant may impact the protein. However, this information is not predictive enough to assume pathogenicity. It should be noted that this lab has only sequenced the CDH23 gene in 121 individuals such t hat the full spectrum of benign variation has not yet been defined for this gene . Therefore, it is possible that this could be a benign variant. In summary, the clinical significance of this variant cannot be determined with certainty at th is time.
Labcorp Genetics (formerly Invitae), Labcorp RCV002513535 SCV003475693 uncertain significance not provided 2022-08-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 2761 of the CDH23 protein (p.Asn2761Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 46047). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001831677 SCV002088873 uncertain significance Usher syndrome type 1 2020-02-21 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.