ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.385G>A (p.Ala129Thr) (rs200328570)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155037 SCV000204721 uncertain significance not specified 2017-08-10 criteria provided, single submitter clinical testing The p.Ala129Thr variant in CDH23 has been previously identified by our laborator y in 4 individuals with hearing loss; however, a variant affecting the remaining copy of CDH23 was not identified in any of these individuals and one had an alt ernate genetic etiology. This variant has been identified in 0.05% (15/30782) of South Asian chromosomes and 0.04% (47/126656) of European chromosomes by the Ge nome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs200 328570); however, this frequency is not high enough to rule out a pathogenic rol e. Computational prediction tools do not provide strong support for or against a n impact to the protein. In summary, the clinical significance of the p.Ala129Th r variant is uncertain.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725256 SCV000335373 uncertain significance not provided 2015-09-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001108254 SCV001265468 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 Clinical Services Laboratory,Illumina RCV001108255 SCV001265469 uncertain significance Deafness, autosomal recessive 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.

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