ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.371A>G (p.Asp124Gly)

dbSNP: rs751192273
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331231 SCV001523224 uncertain significance Autosomal recessive nonsyndromic hearing loss 12 2020-03-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001863239 SCV002178522 uncertain significance not provided 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 124 of the CDH23 protein (p.Asp124Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs751192273, ExAC 0.001%). This missense change has been observed in individual(s) with non-syndromic deafness (PMID: 12075507). 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.

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.