ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3865-2A>G (rs1131691278)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493057 SCV000581773 uncertain significance not provided 2017-05-03 criteria provided, single submitter clinical testing The c.3865-2A>G variant in the OTOF gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3865-2A>G variant destroys the canonical splice acceptor site in intron 30. This splice site variant is predicted to cause abnormal gene splicing resulting in an in-frame protein product with an abnormal message. However, in the absence of RNA/functional studies, the actual effect of c.3865-2A>G in this individual is unknown. The c.3865-2A>G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.3865-2A>G as a variant of uncertain significance.

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