Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001237375 | SCV001410132 | uncertain significance | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2022-08-17 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 491 of the CRB1 protein (p.Asp491Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with CRB1-related conditions (PMID: 20683928, 33546218; Invitae). ClinVar contains an entry for this variant (Variation ID: 963360). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CRB1 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. |
Institute of Medical Molecular Genetics, |
RCV001352966 | SCV001548042 | likely pathogenic | CRB1-related maculopathy | 2021-01-30 | criteria provided, single submitter | clinical testing |