Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220677 | SCV000271554 | uncertain significance | not specified | 2015-04-30 | criteria provided, single submitter | clinical testing | The p.Ala959Val variant in CDH23 has not been previously reported in individuals with hearing loss, but has been identified in 2/63460 European chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computat ional prediction tools and conservation analysis do not provide strong support f or or against an impact to the protein. In summary, the clinical significance of the p.Ala959Val variant is uncertain. |
Invitae | RCV001244237 | SCV001417443 | uncertain significance | not provided | 2022-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 959 of the CDH23 protein (p.Ala959Val). This variant is present in population databases (rs779133533, gnomAD 0.01%). 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: 228488). 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. |
Natera, |
RCV001272547 | SCV001454639 | uncertain significance | Usher syndrome type 1 | 2020-04-15 | no assertion criteria provided | clinical testing |