Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001038213 | SCV001201675 | likely pathogenic | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2022-10-25 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 836977). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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. This missense change has been observed in individual(s) with clinical features of CRB1-related conditions (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 857 of the CRB1 protein (p.Leu857Arg). |
| Ocular Genomics Institute, |
RCV001376351 | SCV001573468 | uncertain significance | Retinitis pigmentosa 12 | 2021-04-08 | criteria provided, single submitter | research | The CRB1 c.2570T>G variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2. Based on this evidence we have classified this variant as Variant of Uncertain Significance. |