ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8726G>A (p.Ser2909Asn)

gnomAD frequency: 0.00001  dbSNP: rs397517361
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Total submissions: 4
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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 RCV000039288 SCV000062972 uncertain significance not specified 2013-03-09 criteria provided, single submitter clinical testing The Ser2909Asn variant in CDH23 has not been reported in affected individuals or in large population studies. Computational analyses (biochemical amino acid pro perties, conservation, AlignGVGD, PolyPhen2) suggest that the Ser2909Asn variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, additional information is needed to fully assess the clinical significance of the variant.
Invitae RCV001368613 SCV001565014 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 2909 of the CDH23 protein (p.Ser2909Asn). This variant is present in population databases (rs397517361, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 46052). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
GeneDx RCV001368613 SCV002056112 uncertain significance not provided 2022-01-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001276058 SCV001461886 uncertain significance Usher syndrome type 1 2020-04-17 no assertion criteria provided clinical testing

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