Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000344764 | SCV000339141 | uncertain significance | not provided | 2016-02-01 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000344764 | SCV001222434 | uncertain significance | not provided | 2022-08-05 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 2147 of the CDH23 protein (p.Thr2147Asn). This variant is present in population databases (rs769241730, gnomAD 0.0009%). 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: 285918). 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. |
| Gene |
RCV000344764 | SCV001993244 | uncertain significance | not provided | 2019-08-14 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Natera, |
RCV001275576 | SCV001460825 | uncertain significance | Usher syndrome type 1 | 2020-01-24 | no assertion criteria provided | clinical testing |