ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) (rs111033480)

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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 RCV000039209 SCV000062893 benign not specified 2014-10-19 criteria provided, single submitter clinical testing p.Arg1771Gln in exon 41 of CDH23: This variant is not expected to have clinical significance because it has been identified in 5.7% (11/192) of LWK (Kenyan) chr omosomes by the 1000 Genomes Project and in 0.2% (8/3976) of African American ch romosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EV S/; rs111033480). In addition the arginine (Arg) amino acid at 1771 is not conse rved across species, with over 10 mammals have a glutamine at this position desp ite high nearby amino acid conservation.
PreventionGenetics,PreventionGenetics RCV000039209 SCV000313986 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039209 SCV000856096 likely benign not specified 2017-08-17 criteria provided, single submitter clinical testing
Invitae RCV000972816 SCV001120544 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001107732 SCV001264908 uncertain significance Deafness, autosomal recessive 12 2017-04-27 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.
Illumina Clinical Services Laboratory,Illumina RCV001107733 SCV001264909 benign Usher syndrome type 1D 2017-04-27 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.

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