ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del)

dbSNP: rs794727173
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175085 SCV000226513 uncertain significance not provided 2015-05-05 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000175085 SCV001475334 uncertain significance not provided 2021-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000175085 SCV002258325 likely pathogenic not provided 2022-10-21 criteria provided, single submitter clinical testing This variant, c.1560_1562del, results in the deletion of 1 amino acid(s) of the OPA1 protein (p.Glu521del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 194662). This variant has been observed in individuals with clinical features of dominant optic atrophy (PMID: 19319978, 31673222, 34242285; Invitae). It has also been observed to segregate with disease in related individuals.
GeneDx RCV000175085 SCV005201499 likely pathogenic not provided 2024-03-04 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22042570, 31673222, 19319978, 34242285)
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816266 SCV005069425 uncertain significance Optic atrophy 2023-01-01 no assertion criteria provided clinical testing

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.