ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.871-1G>A (rs863224130)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199959 SCV000251989 pathogenic not provided 2012-05-18 criteria provided, single submitter clinical testing IVS8-1 G>A: c.871-1 G>A in intron 8 of the OPA1 gene (NM_015560.2) The c.871-1 G>A splice site mutation in the OPA1 gene has been previously reported in association with hereditary optic neuropathy (Ferre et al., 2009). This mutation destroys the canonical splice acceptor site in intron 8, and is expected to cause abnormal gene splicing. The variant is found in OAPEO-MITOP panel(s).

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