ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.3700C>T (p.Arg1234Ter) (rs560339163)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578615 SCV000681360 pathogenic not provided 2018-04-12 criteria provided, single submitter clinical testing The R1234X variant in the OTOG gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1234X variant is observed in 9/173242 (0.005%) alleles in large population cohorts, with no homozygotes observed (Lek et al., 2016). We interpret R1234X as a pathogenic variant.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000578615 SCV001762010 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing

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