ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.687T>G (p.Tyr229Ter) (rs863224128)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195515 SCV000251987 pathogenic not provided 2013-04-03 criteria provided, single submitter clinical testing The Y229X nonsense mutation in the OPA1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been reported previously to our knowledge, its presence is consistent with a diagnosis of Optic Atrophy 1. The variant is found in OAPEO-MITOP panel(s).

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