ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3824C>G (p.Thr1275Arg)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002988525 SCV003290466 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-24 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 1275 of the CRB1 protein (p.Thr1275Arg). This variant is present in population databases (rs138089138, gnomAD 0.1%). 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: 2078232). 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 with a positive predictive value of 80%. 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.
Ambry Genetics RCV003250681 SCV003943839 uncertain significance Inborn genetic diseases 2023-06-02 criteria provided, single submitter clinical testing The c.3824C>G (p.T1275R) alteration is located in exon 10 (coding exon 10) of the CRB1 gene. This alteration results from a C to G substitution at nucleotide position 3824, causing the threonine (T) at amino acid position 1275 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003455645 SCV004180189 uncertain significance Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455646 SCV004180190 uncertain significance Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455644 SCV004180191 uncertain significance Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889197 SCV004706341 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.