ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.985-2A>G (rs886041317)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000368869 SCV000344349 pathogenic not provided 2016-08-17 criteria provided, single submitter clinical testing
GeneDx RCV000368869 SCV000329705 pathogenic not provided 2016-10-05 criteria provided, single submitter clinical testing The c.985-2 A>G splice site variant in the OPA1 gene has been previously reported in association with autosomal dominant optic atrophy in two unrelated families (Li et al., 2008; Ranieri et al., 2012). This pathogenic variant destroys the canonical splice acceptor site in intron 9, and results in abnormal gene splicing (Li et al., 2008). Therefore we interpret c.985-2 A>G to be a pathogenic variant.

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