ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5335G>C (p.Val1779Leu)

gnomAD frequency: 0.00002  dbSNP: rs376114326
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 RCV001313735 SCV001504239 uncertain significance not provided 2022-03-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1779 of the CDH23 protein (p.Val1779Leu). This variant is present in population databases (rs376114326, gnomAD 0.007%). 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: 1014931). 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 C25"). 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.
Ambry Genetics RCV003355380 SCV004078373 uncertain significance Inborn genetic diseases 2023-06-21 criteria provided, single submitter clinical testing The c.5335G>C (p.V1779L) alteration is located in exon 41 (coding exon 40) of the CDH23 gene. This alteration results from a G to C substitution at nucleotide position 5335, causing the valine (V) at amino acid position 1779 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835547 SCV002089408 uncertain significance Usher syndrome type 1 2021-02-02 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.