ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9078G>C (p.Arg3026=)

gnomAD frequency: 0.00003  dbSNP: rs727504725
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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, Mass General Brigham Personalized Medicine RCV000156017 SCV000205729 uncertain significance not specified 2013-09-05 criteria provided, single submitter clinical testing The Arg3026Arg variant in CDH23 has not been reported in individuals with hearin g loss or in large population studies. Although this is a synonymous variant, it is located in the first base of the exon, which is part of the 3? splice region , and variants at this position can sometimes alter normal splicing. Computation al tools do not predict altered splicing, however, this information is not predi ctive enough to rule out pathogenicity. In summary, additional information is ne eded to fully assess the clinical significance of the Arg3026Arg variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV002516144 SCV003274759 uncertain significance not provided 2021-09-30 criteria provided, single submitter clinical testing This sequence change affects codon 3026 of the CDH23 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CDH23 protein. This variant is present in population databases (rs727504725, ExAC 0.009%). This variant has not been reported in the literature in individuals with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 179230). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001831972 SCV002092099 uncertain significance Usher syndrome type 1 2020-08-27 no assertion criteria provided clinical testing

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