ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln)

gnomAD frequency: 0.00170  dbSNP: rs115113440
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
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 RCV000039227 SCV000062911 likely benign not specified 2010-09-16 criteria provided, single submitter clinical testing Arg1918Gln in exon 44 of CDH23: This variant is not predicted to have clinical s ignificance because the Arg1918 residue is not conserved across species and is r eplaced with the variant Gln residue in Chicken. Furthermore, computational anal yses predict that the variant will not affect the protein.
Eurofins Ntd Llc (ga) RCV000039227 SCV000230660 benign not specified 2014-12-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000325842 SCV000363813 uncertain significance Autosomal recessive nonsyndromic hearing loss 12 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV000385117 SCV000363814 uncertain significance CDH23-Related Disorders 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271728 SCV000363815 uncertain significance Usher syndrome type 1D 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000905205 SCV001049775 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003407408 SCV004114872 uncertain significance CDH23-related condition 2022-08-18 criteria provided, single submitter clinical testing The CDH23 c.5753G>A variant is predicted to result in the amino acid substitution p.Arg1918Gln. This variant was reported in a patient with hearing loss, although conclusive evidence of pathogenicity was not presented (Table S3, Sloan-Heggen et al 2016. PubMed ID: 26969326). This variant is reported in 0.55% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-73545428-G-A), which is higher than expected for a pathogenic variant in this gene. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001275564 SCV001460813 uncertain significance Usher syndrome type 1 2020-04-16 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.