ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1516+1G>T (rs886041318)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000300504 SCV000329707 pathogenic not provided 2016-05-05 criteria provided, single submitter clinical testing The c.1516+1G>T pathogenic variant in the OPA1 gene has been reported previously in a family with autosomal dominant optic atrophy (Toomes et al., 2001). This splice site variant destroys the canonical splice donor site in intron 1. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.1516+1G>T variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Splice site variants in the same position (c.1516+1G>C and c.1516+1G>A) have been reported in association with autosomal dominant optic atrophy (Schimpf et al., 2008; Santarelli et al., 2015), supporting the importance of this splice site. We interpret c.1516+1G>T as a pathogenic variant.

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