Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001038259 | SCV001201723 | uncertain significance | not provided | 2024-09-15 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 3296 of the CDH23 protein (p.Asp3296Asn). This variant is present in population databases (rs372388344, gnomAD 0.009%). This missense change has been observed in individual(s) with retinal dystrophy (PMID: 36460718). ClinVar contains an entry for this variant (Variation ID: 437905). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CDH23 protein function with a negative predictive value of 95%. 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. |
OMIM | RCV000504587 | SCV000598646 | pathogenic | Pituitary adenoma 5, multiple types | 2017-09-27 | no assertion criteria provided | literature only | |
Natera, |
RCV001271955 | SCV001453530 | uncertain significance | Usher syndrome type 1 | 2020-09-16 | no assertion criteria provided | clinical testing |