ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6098C>T (p.Ser2033Leu)

gnomAD frequency: 0.00004  dbSNP: rs537971045
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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 RCV000156141 SCV000205855 likely benign not specified 2013-10-17 criteria provided, single submitter clinical testing Ser2033Leu in exon 47 of CDH23: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, rhesus, baboon, and rock hyrax have a leucine (Leu) at this position desp ite high nearby amino acid conservation. In addition, computational analyses (P olyPhen2, SIFT, AlignGVGD) do not suggest a high likelihood of impact to the pro tein.
Eurofins Ntd Llc (ga) RCV000724950 SCV000332671 uncertain significance not provided 2015-07-23 criteria provided, single submitter clinical testing
Invitae RCV000724950 SCV002185714 uncertain significance not provided 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 2033 of the CDH23 protein (p.Ser2033Leu). This variant is present in population databases (rs537971045, gnomAD 0.02%). 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: 179352). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The leucine 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.
Natera, Inc. RCV001275568 SCV001460817 uncertain significance Usher syndrome type 1 2020-01-24 no assertion criteria provided clinical testing

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