ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1750C>T (p.Arg584Trp)

gnomAD frequency: 0.00004  dbSNP: rs375781856
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000941267 SCV001087150 likely benign not provided 2024-03-22 criteria provided, single submitter clinical testing
GeneDx RCV000941267 SCV001981946 uncertain significance not provided 2024-07-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001275930 SCV001461610 uncertain significance Usher syndrome type 1 2020-04-15 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004543522 SCV004773180 uncertain significance CDH23-related disorder 2023-10-27 no assertion criteria provided clinical testing The CDH23 c.1750C>T variant is predicted to result in the amino acid substitution p.Arg584Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-73437448-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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