ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr)

dbSNP: rs1471328495
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002019364 SCV002284400 likely pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-12-17 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 587 of the CRB1 protein (p.Cys587Tyr). 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: 15459956, 21757580, 29186038, 36460718). 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: 1497162). 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. 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.
Baylor Genetics RCV003475279 SCV004211159 likely pathogenic Leber congenital amaurosis 8 2023-08-13 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888988 SCV004705142 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.