ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1230+1G>A

dbSNP: rs80356528
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
CeGaT Center for Human Genetics Tuebingen RCV001090767 SCV001246479 pathogenic not provided 2019-09-01 criteria provided, single submitter clinical testing
Invitae RCV001090767 SCV003525687 pathogenic not provided 2023-06-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 10, but is expected to preserve the integrity of the reading-frame (PMID: 17722006). ClinVar contains an entry for this variant (Variation ID: 871022). This variant is also known as c.1230+1G>A in NM_130837.2. Disruption of this splice site has been observed in individuals with autosomal dominant optic atrophy (PMID: 15948788, 17722006, 27860320; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 10 of the OPA1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product.

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.