ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.870+5G>A (rs754576717)

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 RCV000498640 SCV000589519 likely pathogenic not provided 2016-06-10 criteria provided, single submitter clinical testing The c.870+5 G>A variant has been previously reported in association with optic atrophy (Toomes et al., 2001; Baris et al., 2003; Yu-Wai-Man et al., 2010). Siblings harboring the c.870+5 G>A variant presented with optic atrophy, myopathy, neuropathy, and migraines (Yu-Wai-Man et al., 2010). The c.870+5 G>A (denoted c.1035+5 G>A by alternative transcript) has been described in an individual diagnosed with optic atrophy at age 47; the variant segregated with visual problems in the family (Oldak et al., 2014). The 870+5 G>A variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.870+5 G>A variant reduces the quality of the splice donor site in intron 8, and is expected to cause abnormal gene splicing. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Athena Diagnostics Inc RCV000498640 SCV000614391 likely pathogenic not provided 2017-04-28 criteria provided, single submitter clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000678587 SCV000804669 likely pathogenic Dominant hereditary optic atrophy 2016-09-01 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.