ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3277G>A (p.Glu1093Lys) (rs1064795233)

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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 RCV000478049 SCV000861444 uncertain significance not provided 2018-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000478049 SCV000570848 likely pathogenic not provided 2017-09-11 criteria provided, single submitter clinical testing The E1093K variant in the OTOF gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The E1093 variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E1093K 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 that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (L1088P and A1090E) have been reported in the Human Gene Mutation Database in association with hearing loss (Stenson et al., 2014), supporting the functional importance of this region of the protein. The E1093K variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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