Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179969 | SCV000232296 | uncertain significance | not provided | 2015-01-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000179969 | SCV002038724 | uncertain significance | not provided | 2021-06-14 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27535533) |
Invitae | RCV000179969 | SCV002194746 | uncertain significance | not provided | 2022-07-13 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 207 of the CDH23 protein (p.Ala207Thr). This variant is present in population databases (rs777365157, gnomAD 0.006%). 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: 198586). 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. |