ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) (rs1191496583)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542372 SCV000644185 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2019-11-08 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 140 of the RPE65 protein (p.Gly140Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Leber congenital amaurosis or retinitis pigmentosa (PMID: 28181551, 30870047). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 467827). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
Cytogenetics and Genomics Laboratory,Medical University of South Carolina RCV000754974 SCV000803384 likely pathogenic Leber congenital amaurosis 2018-06-01 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.