ClinVar Miner

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

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Total submissions: 4
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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
CeGaT Praxis fuer Humangenetik Tuebingen RCV000498640 SCV001246477 pathogenic not provided 2019-09-01 criteria provided, single submitter clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000678587 SCV000804669 likely pathogenic Autosomal dominant optic atrophy classic form 2016-09-01 no assertion criteria provided clinical testing

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