ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8624T>C (p.Ile2875Thr)

gnomAD frequency: 0.00004  dbSNP: rs776064526
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039448 SCV001202978 uncertain significance not provided 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 2875 of the CDH23 protein (p.Ile2875Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs776064526, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. 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 threonine 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. RCV001276920 SCV001463577 uncertain significance Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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