ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2059+6G>A (rs727502923)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150280 SCV000197305 uncertain significance not specified 2013-05-31 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 2059+6G>A varia nt in CDH23 has been reported in 1/244 of chromosomes without additional informa tion (Deafness Variant Database; http://deafnessvariationdatabase.org). This var iant is located in the 5' splice region, but not in the invariant +1/+2 splice s ite positions. Computational tools do not suggest an impact to splicing and this nucleotide position is not conserved across species; though, this information i s not predictive enough to rule out pathogenicity. In summary, the clinical sign ificance of this variant cannot be determined; however, based on the lack of con servation at this position as well as the computational data, we would lean towa rds a likely benign role.
Illumina Clinical Services Laboratory,Illumina RCV001103350 SCV001260096 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 RCV001103351 SCV001260097 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.

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