ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1516+1G>C (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 RCV000598674 SCV000709895 pathogenic not provided 2018-02-23 criteria provided, single submitter clinical testing The c.1516+1G>C variant in the OPA1 gene has been reported previously in an individual with optic atrophy (Schimpf et al., 2008). This splice site variant destroys the canonical splice donor site in intron 15. 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. In addition, a splicing variant at the same residue (c.1516+1G>T) has been reported in the heterozygous state in a large family with optic atropy, supporting the functional importance of this region of the protein (Toomes et al., 2001). The c.1516+1G>C variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1516+1G>C as a pathogenic variant.

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