ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.430A>G (p.Asn144Asp)

gnomAD frequency: 0.00001  dbSNP: rs1392353999
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002021769 SCV002316831 uncertain significance not provided 2022-10-03 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 144 of the CDH23 protein (p.Asn144Asp). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. 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. 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 aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1518469).

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