ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser)

gnomAD frequency: 0.00001  dbSNP: rs555432123
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483578 SCV000571379 uncertain significance not provided 2024-09-16 criteria provided, single submitter clinical testing Reported with a second variant (phase unknown) in a patient with sensorineural hearing loss in published literature (PMID: 31152317); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31152317)
Fulgent Genetics, Fulgent Genetics RCV000764920 SCV000896083 uncertain significance Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000483578 SCV001421834 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1982 of the CDH23 protein (p.Asn1982Ser). This variant is present in population databases (rs555432123, gnomAD 0.03%). This missense change has been observed in individual(s) with hearing loss (PMID: 31152317). ClinVar contains an entry for this variant (Variation ID: 422021). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CDH23 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. RCV001274896 SCV001459449 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.