ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.1A>G (p.Met1Val)

dbSNP: rs1230629432
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
Invitae RCV001378889 SCV001576580 likely pathogenic 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2020-01-26 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. This variant has been observed in individual(s) with OPA3-related disease (PMID: 24749080, 25205859). This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the OPA3 mRNA. The next in-frame methionine is located at codon 8.

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.