ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) (rs41281338)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039274 SCV000062958 benign not specified 2011-10-17 criteria provided, single submitter clinical testing Glu2588Gln in exon 55 of CDH23: This variant is not expected to have clinical si gnificance due to its occurrence at an equal frequency in the general population (Astuto 2002, Oshima 2008, Kothiyal 2010), its presence in dbSNP at a frequency of 0.9% (8/899) of control chromosomes (rs41281338), and the lack of conservati on of Glu2588 as cow, dog, cat, and opossum all have a glutamine (Gln) at this p osition.
GeneDx RCV000039274 SCV000714491 likely benign not specified 2017-11-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV001104789 SCV001261676 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV001104790 SCV001261677 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.
Athena Diagnostics Inc RCV000039274 SCV001475762 benign not specified 2019-12-05 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001104789 SCV001653332 likely benign Usher syndrome type 1D 2021-05-18 criteria provided, single submitter clinical testing
Invitae RCV001522497 SCV001732057 benign not provided 2020-12-06 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001104790 SCV001750582 likely benign Deafness, autosomal recessive 12 2021-07-01 criteria provided, single submitter clinical testing

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