ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) (rs142857685)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039281 SCV000062965 benign not specified 2014-10-19 criteria provided, single submitter clinical testing p.Val2723Leu in exon 57 of CDH23: This variant is not expected to have clinical significance because it has been identified in 5.2% (10/192) of LWK (Kenyan) chr omosomes by the 1000 Genomes Project and in 0.2% (9/4222) of African American ch romosomes by the NHLBI Exome Sequencing Project and (http://evs.gs.washington.ed u/EVS/; rs111033480). In addition, the valine (Val) residue at position 2723 is not conserved across species, with at least 3 mammals (David's myotis, big brown bat, microbat) having a leucine (Leu) at this position.
PreventionGenetics,PreventionGenetics RCV000039281 SCV000313999 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725935 SCV000340639 uncertain significance not provided 2016-05-10 criteria provided, single submitter clinical testing
Invitae RCV000725935 SCV001022043 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001108161 SCV001265365 benign Usher syndrome type 1D 2017-08-30 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001108162 SCV001265366 uncertain significance Deafness, autosomal recessive 12 2017-08-30 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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