Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001963012 | SCV002232749 | pathogenic | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2023-09-29 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 846 of the CRB1 protein (p.Gly846Arg). This variant is present in population databases (rs539189291, gnomAD 0.01%). This missense change has been observed in individuals with CRB1-related conditions (PMID: 12573663, 20956273, 28341476). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1455364). 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 expected to disrupt CRB1 protein function. For these reasons, this variant has been classified as Pathogenic. |
Ophthalmic Genetics Group, |
RCV004794566 | SCV005415474 | likely pathogenic | Retinal dystrophy | 2024-05-27 | criteria provided, single submitter | research |