ClinVar Miner

Submissions for variant NM_001122769.3(LCA5):c.2006G>A (p.Arg669Lys)

dbSNP: rs371733166
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000884 SCV001157966 uncertain significance Leber congenital amaurosis 5 2019-01-03 criteria provided, single submitter clinical testing The LCA5 c.2006G>A; p.Arg669Lys variant (rs371733166), to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is listed in the general population with an allele frequency of 0.0008% (2/251158 alleles) in the Genome Aggregation Database. The arginine at this position is moderately conserved and computational analyses (PolyPhen-2, SIFT) predict this variant is deleterious. However, most pathogenic LCA5 variants are truncating (Mackay 2013). Considering available information, the clinical significance of this variant cannot be determined with certainty. References: Mackay DS et al. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. Hum Mutat. 2013 Nov;34(11):1537-1546.
Invitae RCV001349643 SCV001543998 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with LCA5-related conditions. ClinVar contains an entry for this variant (Variation ID: 811180). 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.
Natera, Inc. RCV001000884 SCV002076744 uncertain significance Leber congenital amaurosis 5 2020-09-23 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.