ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.2819G>A (p.Cys940Tyr) (rs1309976795)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523523 SCV000618520 uncertain significance not provided 2017-06-22 criteria provided, single submitter clinical testing The C940Y variant in the OTOG gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Adequate data is not available in large population cohorts to assess the frequency of this variant in publicly available databases; however, this variant has not been detected in presumably healthy individuals tested at GeneDx. The C940Y 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, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret C940Y as a variant of uncertain significance.

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