ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) (rs61752877)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538669 SCV000644182 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2019-12-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg124*) in the RPE65 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs61752877, ExAC 0.02%). This variant has been observed in individuals affected with Leber congenital amaurosis (PMID: 9501220, 19854499, 20683928). ClinVar contains an entry for this variant (Variation ID: 98866). Loss-of-function variants in RPE65 are known to be pathogenic (PMID: 9326941, 9501220). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000986332 SCV001135305 pathogenic Leber congenital amaurosis 2 2019-05-28 criteria provided, single submitter clinical testing
Retina International RCV000085195 SCV000117332 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology,Institut Imagine RCV000986332 SCV001425582 pathogenic Leber congenital amaurosis 2 no assertion criteria provided 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.