ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.1041C>G (p.Tyr347Ter) (rs577674003)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578759 SCV000681143 likely pathogenic not provided 2017-12-08 criteria provided, single submitter clinical testing The Y347X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Although this variant has not been reported previously to our knowledge, we consider it to be likely pathogenic.

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