ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) (rs370762269)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155049 SCV000204733 uncertain significance not specified 2014-02-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ala1631Val vari ant in CDH23 has been reported in one individual with hearing loss; however, thi s individual did not have a second variant in the CDH23 gene (Shearer 2013). Thi s variant was also identified in 0.04% (3/8432) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). The alanine (Ala) residue at position 1631 is not conserved across several species w ith Gorilla having valine (Val) at this position, suggesting that the variant ma y be tolerated. However, this information is not sufficient to rule out pathogen icity. In summary, the clinical significance of this variant cannot be determine d with certainty; however based upon the conservation data, we would lean toward s a more likely benign role.
Illumina Clinical Services Laboratory,Illumina RCV000279211 SCV000363758 uncertain significance Deafness, autosomal recessive 12 2018-01-13 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 RCV000338894 SCV000363759 uncertain significance Usher syndrome type 1D 2018-01-13 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 RCV000406115 SCV000363760 uncertain significance CDH23-Related Disorders 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000900747 SCV001045081 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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