ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6242A>G (p.Asn2081Ser)

gnomAD frequency: 0.00001  dbSNP: rs767001826
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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 RCV001233256 SCV001405842 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 2081 of the CDH23 protein (p.Asn2081Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs767001826, ExAC 0.01%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C45"). 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 RCV004033198 SCV004922004 uncertain significance Inborn genetic diseases 2024-02-05 criteria provided, single submitter clinical testing The c.6242A>G (p.N2081S) alteration is located in exon 47 (coding exon 46) of the CDH23 gene. This alteration results from a A to G substitution at nucleotide position 6242, causing the asparagine (N) at amino acid position 2081 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001233256 SCV005332142 uncertain significance not provided 2023-05-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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