ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.2569C>T (p.Arg857Ter) (rs794727405)

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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 RCV000199431 SCV000228252 pathogenic not provided 2014-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000199431 SCV000252003 pathogenic not provided 2014-10-09 criteria provided, single submitter clinical testing The R857X nonsense mutation in the OPA1 gene has been reported previously in a patient with optic neuropathy (Ferre et al, 2009). This mutation is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. The variant is found in OAPEO-MITOP panel(s).

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