ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2959C>T (p.Arg987Cys)

gnomAD frequency: 0.00002  dbSNP: rs145710079
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
National Institute on Deafness and Communication Disorders, National Institutes of Health RCV001328034 SCV001519369 uncertain significance Childhood onset hearing loss 2021-07-08 criteria provided, single submitter research PP3 / Modifications from PMID: 30311386 for classification: The genetic causes of hearing loss have not yet been well characterized in the Yoruba population, and the information regarding variant MAF in this population is still limited, so we did not exclude any variant based on their "high" MAF. PP3 criteria was applied even if the REVEL score was below 0.7, if at least two of the pathogenicity prediction algorithms used predicted that the variant was damaging or likely damaging.
Invitae RCV001859249 SCV002128983 likely benign not provided 2024-01-22 criteria provided, single submitter 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.