ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.3371A>G (p.Asn1124Ser) (rs571215839)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483924 SCV000574365 uncertain significance not provided 2017-03-29 criteria provided, single submitter clinical testing The N1124S variant in the OTOG gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The N1124S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The N1124S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, 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 N1124S as a variant of uncertain significance.

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