ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn)

gnomAD frequency: 0.00001  dbSNP: rs372388344
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001038259 SCV001201723 uncertain significance not provided 2024-09-15 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 3296 of the CDH23 protein (p.Asp3296Asn). This variant is present in population databases (rs372388344, gnomAD 0.009%). This missense change has been observed in individual(s) with retinal dystrophy (PMID: 36460718). ClinVar contains an entry for this variant (Variation ID: 437905). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CDH23 protein function with a negative predictive value of 95%. 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.
OMIM RCV000504587 SCV000598646 pathogenic Pituitary adenoma 5, multiple types 2017-09-27 no assertion criteria provided literature only
Natera, Inc. RCV001271955 SCV001453530 uncertain significance Usher syndrome type 1 2020-09-16 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.