Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001067848 | SCV001232929 | pathogenic | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 880 of the CRB1 protein (p.Asn880Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with CRB1-related conditions (PMID: 28041643, 34884448; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 438076). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CRB1 protein function. For these reasons, this variant has been classified as Pathogenic. |
Ocular Genomics Institute, |
RCV001376401 | SCV001573525 | uncertain significance | Retinitis pigmentosa 12 | 2021-04-08 | criteria provided, single submitter | research | The CRB1 c.2639A>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, PP3, PM3. Based on this evidence we have classified this variant as Variant of Uncertain Significance. |
Baylor Genetics | RCV003476198 | SCV004211153 | likely pathogenic | Leber congenital amaurosis 8 | 2024-02-20 | criteria provided, single submitter | clinical testing | |
NIHR Bioresource Rare Diseases, |
RCV000504944 | SCV000598916 | likely pathogenic | Retinitis pigmentosa | 2015-01-01 | no assertion criteria provided | research | |
Natera, |
RCV001834627 | SCV002090182 | uncertain significance | Leber congenital amaurosis | 2021-03-24 | no assertion criteria provided | clinical testing |