Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001049924 | SCV001214003 | pathogenic | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 1005 of the CRB1 protein (p.Asp1005Val). This variant is present in population databases (rs369184026, gnomAD 0.005%). This missense change has been observed in individual(s) with CRB1-related conditions (PMID: 23379534, 28559085). 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: 846589). 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. |
Blueprint Genetics | RCV001073588 | SCV001239139 | pathogenic | Retinal dystrophy | 2019-07-06 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001250611 | SCV004180112 | pathogenic | Leber congenital amaurosis 8 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003455213 | SCV004180113 | pathogenic | Pigmented paravenous retinochoroidal atrophy | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003455212 | SCV004180115 | pathogenic | Retinitis pigmentosa 12 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001250611 | SCV004211145 | pathogenic | Leber congenital amaurosis 8 | 2023-08-31 | criteria provided, single submitter | clinical testing | |
Laboratory of Genetics in Ophthalmology, |
RCV001250611 | SCV001425480 | likely pathogenic | Leber congenital amaurosis 8 | no assertion criteria provided | research | ||
Natera, |
RCV001832464 | SCV002090197 | pathogenic | Leber congenital amaurosis | 2021-03-26 | no assertion criteria provided | clinical testing |