ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1912G>T (p.Gly638Cys)

gnomAD frequency: 0.00001  dbSNP: rs1131691297
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492932 SCV000581810 uncertain significance not provided 2017-05-04 criteria provided, single submitter clinical testing The G638C variant in the OTOF gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G638C variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G638C 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. We interpret G638C as a variant of uncertain significance.

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