Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000225460 | SCV001240591 | likely pathogenic | Retinal dystrophy | 2017-11-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002516254 | SCV003523994 | uncertain significance | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2022-01-11 | 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 945 of the CRB1 protein (p.Gly945Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with inherited retinal disease (PMID: 27208204). ClinVar contains an entry for this variant (Variation ID: 236475). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Centre for Genomic Medicine, |
RCV000225460 | SCV000282581 | uncertain significance | Retinal dystrophy | no assertion criteria provided | clinical testing |