ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2605del (p.Glu868_Ile869insTer)

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
Institute of Human Genetics, University of Goettingen RCV003485955 SCV004232423 pathogenic Autosomal dominant optic atrophy classic form 2024-01-23 criteria provided, single submitter clinical testing The variant c.2440del (p.(Ile814*)) in exon 24 of the OPA1 gene is not found in the gnomAD database and changes the protein sequence starting at position 814 and interrupts the reading frame prematurely. It was found in a patient with the clinical diagnosis of optic atrophy. ACMG criteria used for classification: PVS1, PM2_supp, PP4.

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.