ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.540G>C (p.Ter180Tyr)

gnomAD frequency: 0.00001  dbSNP: rs774281852
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199038 SCV000252023 pathogenic not provided 2012-09-14 criteria provided, single submitter clinical testing The c.540 G>C mutation in the OPA3 gene changes the Stop codon at amino acid position 180 to a Tyrosine codon and results in the extension of the OPA3 protein by 97 amino acids, denoted p.Stop180Tyrext97. This extension of 97 amino acids is predicted to affect the function of the OPA3 protein. Although this mutation has not been previously reported to our knowledge, it is expected to be a disease-associated mutation. The variant is found in MITONUC-MITOP panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV001853188 SCV002190039 uncertain significance 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2021-12-11 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the OPA3 mRNA. It is expected to extend the length of the OPA3 protein by 97 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with OPA3-related conditions. ClinVar contains an entry for this variant (Variation ID: 214928). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV000199038 SCV005408865 uncertain significance not provided 2023-10-31 criteria provided, single submitter clinical testing PM2_moderate, PM4

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.