Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001247191 | SCV001420598 | uncertain significance | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2022-07-25 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 365 of the CRB1 protein (p.Arg365Cys). This variant is present in population databases (rs116347915, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 971419). 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. |
Dept Of Ophthalmology, |
RCV003887970 | SCV004704997 | uncertain significance | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Ambry Genetics | RCV004034888 | SCV004852063 | uncertain significance | Inborn genetic diseases | 2024-03-01 | criteria provided, single submitter | clinical testing | The c.1093C>T (p.R365C) alteration is located in exon 5 (coding exon 5) of the CRB1 gene. This alteration results from a C to T substitution at nucleotide position 1093, causing the arginine (R) at amino acid position 365 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Breakthrough Genomics, |
RCV004691397 | SCV005187133 | uncertain significance | not provided | criteria provided, single submitter | not provided | ||
Natera, |
RCV001836244 | SCV002090130 | uncertain significance | Leber congenital amaurosis | 2020-01-18 | no assertion criteria provided | clinical testing |