ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.7570C>T (p.Arg2524Cys) (rs533820347)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522896 SCV000619238 uncertain significance not specified 2017-07-26 criteria provided, single submitter clinical testing The R2524C variant in the OTOG gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Reliable data is not available in large population cohorts to assess the frequency of this variant in publicly available databases; however, the R2524C variant is observed in 73/76,088 (0.1%) alleles from individuals undergoing testing at GeneDx, and no individuals are reported to be homozygous. The R2524C 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 Arginine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R2524C as a variant of uncertain significance.

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