ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.2496+4_2496+5delinsGTAAC (rs863224143)

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
GeneDx RCV000198499 SCV000252011 pathogenic not provided 2013-02-12 criteria provided, single submitter clinical testing c.2496+4_2496+5delinsGTAAC : IVS24+(4_5)delATinsGTAAC in intron 24 of the OPA1 gene (NM_015560.2) The c.2496+4_2496+5delinsGTAAC splice site mutation in the OPA1 gene has been previously reported to segregate with the phenotype in a Danish family with autosomal dominant optic atrophy (Almind et al., 2012). This mutation is predicted to destroy the splice donor site in intron 24, and is expected to cause abnormal gene splicing. The variant is found in OAPEO-MITOP panel(s).

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.