ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile)

gnomAD frequency: 0.00002  dbSNP: rs397517307
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
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 RCV000039106 SCV000062788 likely benign not specified 2012-09-23 criteria provided, single submitter clinical testing Thr491Ile in exon 15 of CDH23: This variant is not expected to have clinical sig nificance due to a lack of conservation of the amino acid site across species, i ncluding mammals. Of note, the kangaroo rat has an Ile at this position, despit e high nearby amino acid conservation.
Illumina Laboratory Services, Illumina RCV001103251 SCV001259984 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.
Illumina Laboratory Services, Illumina RCV001103252 SCV001259985 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.
Athena Diagnostics Inc RCV001288115 SCV001474986 likely benign not provided 2020-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001103251 SCV001652744 likely benign Usher syndrome type 1D 2021-05-18 criteria provided, single submitter clinical testing
Invitae RCV001288115 SCV002175180 likely benign not provided 2024-01-24 criteria provided, single submitter 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.