ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9865A>G (p.Thr3289Ala)

gnomAD frequency: 0.00011  dbSNP: rs375712395
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001372229 SCV001568843 uncertain significance not provided 2022-08-02 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 3289 of the CDH23 protein (p.Thr3289Ala). This variant is present in population databases (rs375712395, gnomAD 0.04%). 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: 1062504). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV004980405 SCV005557966 uncertain significance Inborn genetic diseases 2024-10-12 criteria provided, single submitter clinical testing The c.9865A>G (p.T3289A) alteration is located in exon 70 (coding exon 69) of the CDH23 gene. This alteration results from a A to G substitution at nucleotide position 9865, causing the threonine (T) at amino acid position 3289 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001831314 SCV002086375 uncertain significance Usher syndrome type 1 2020-12-29 no assertion criteria provided clinical testing

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