Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156141 | SCV000205855 | likely benign | not specified | 2013-10-17 | criteria provided, single submitter | clinical testing | Ser2033Leu in exon 47 of CDH23: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, rhesus, baboon, and rock hyrax have a leucine (Leu) at this position desp ite high nearby amino acid conservation. In addition, computational analyses (P olyPhen2, SIFT, AlignGVGD) do not suggest a high likelihood of impact to the pro tein. |
Eurofins Ntd Llc |
RCV000724950 | SCV000332671 | uncertain significance | not provided | 2015-07-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000724950 | SCV002185714 | uncertain significance | not provided | 2022-07-26 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 2033 of the CDH23 protein (p.Ser2033Leu). This variant is present in population databases (rs537971045, gnomAD 0.02%). 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: 179352). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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, |
RCV001275568 | SCV001460817 | uncertain significance | Usher syndrome type 1 | 2020-01-24 | no assertion criteria provided | clinical testing |