ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1023T>A (p.Asn341Lys)

dbSNP: rs1064797127
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487656 SCV000574802 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001865496 SCV002130274 uncertain significance Retinitis pigmentosa 12; Leber congenital amaurosis 8 2021-10-25 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 341 of the CRB1 protein (p.Asn341Lys). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 424924). 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.
Genome-Nilou Lab RCV001250639 SCV004178882 uncertain significance Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449246 SCV004178883 uncertain significance Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449245 SCV004178885 uncertain significance Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250639 SCV001425510 uncertain significance Leber congenital amaurosis 8 no assertion criteria provided research
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816699 SCV005068644 uncertain significance Retinal dystrophy 2021-01-01 no assertion criteria provided clinical testing

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.