ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) (rs61752908)

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 RCV000808234 SCV000948331 likely pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2018-10-30 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 330 of the RPE65 protein (p.Cys330Tyr). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs61752908, ExAC 0.001%). This variant has been observed to segregate with Leber congenital amaurosis in a family (PMID: 10090910). ClinVar contains an entry for this variant (Variation ID: 98904). Experimental studies have shown that this missense change has a deleterious effect on protein function (PMID: 26427455, 16150724, 16096063). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Retina International RCV000085237 SCV000117374 not provided not provided no assertion provided not provided

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.