ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2536G>A (p.Asp846Asn)

gnomAD frequency: 0.00005  dbSNP: rs372807578
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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 RCV001294300 SCV001483172 uncertain significance not provided 2022-08-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 846 of the CDH23 protein (p.Asp846Asn). This variant is present in population databases (rs372807578, gnomAD 0.005%). 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: 998441). 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 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.
Ambry Genetics RCV002538433 SCV003560781 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.2536G>A (p.D846N) alteration is located in exon 23 (coding exon 22) of the CDH23 gene. This alteration results from a G to A substitution at nucleotide position 2536, causing the aspartic acid (D) at amino acid position 846 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835382 SCV002085672 uncertain significance Usher syndrome type 1 2020-07-21 no assertion criteria provided clinical testing

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