ClinVar Miner

Submissions for variant NM_015560.2(OPA1):c.1669C>T (p.Arg557Ter) (rs398124299)

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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 RCV000081753 SCV000226655 pathogenic not provided 2017-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000081753 SCV000252012 pathogenic not provided 2017-03-15 criteria provided, single submitter clinical testing p.Arg557Ter (CGA>TGA): c.1669 C>T in exon 17 of the OPA1 gene (NM_015560.2). The R577X nonsense mutation in the OPA1 gene has been reported previously in association with autosomal dominant optic atrophy type 1 (ADOA1) (Toomes et al., 2011). The R577X mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in MITONUC-MITOP panel(s).

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