ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1067dup (p.Asn356fs) (rs281865520)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732582 SCV000860554 pathogenic not provided 2018-03-23 criteria provided, single submitter clinical testing
Invitae RCV000812394 SCV000952705 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2018-12-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn356Lysfs*9) in the RPE65 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individuals affected with retinal dystrophy (PMID: 19959640, 26906952). It is also known as Lys354 ins1gtgA in the literature. Loss-of-function variants in RPE65 are known to be pathogenic (PMID: 9326941, 9501220, 18632300). For these reasons, this variant has been classified as Pathogenic.

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.