ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.4334A>G (p.Glu1445Gly) (rs1131691695)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493030 SCV000582647 uncertain significance not provided 2018-11-12 criteria provided, single submitter clinical testing The E1445G variant in the OTOF gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The E1445G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E1445G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Glutamic acid are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret E1445G as a variant of uncertain significance.

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