ClinVar Miner

Submissions for variant NM_004744.5(LRAT):c.40G>T (p.Glu14Ter) (rs768255532)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000826116 SCV000967624 likely pathogenic Leber congenital amaurosis 2018-12-27 criteria provided, single submitter clinical testing The p.Glu14X variant in LRAT has not been previously reported in individuals wit h Leber congenital amaurosis and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 14, which is predicted to lead to a truncated or absent protein. Loss of function of the LRA T gene is strongly associated with autosomal recessive Leber congenital amaurosi s. In summary, although additional studies are required to fully establish its c linical significance, this variant meets criteria to be classified as likely pat hogenic for Leber congenital amaurosis in an autosomal recessive manner. ACMG/AM P Criteria applied: PVS1_Strong, PM2.

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.