ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.1389C>A (p.Phe463Leu) (rs189947237)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519284 SCV000619548 uncertain significance not specified 2017-08-04 criteria provided, single submitter clinical testing The F463L variant in the OTOG gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The F463L variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The F463L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved in mammals, however, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret F463L as a variant of uncertain significance.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000519284 SCV000711616 benign not specified 2017-08-25 criteria provided, single submitter clinical testing p.Phe463Leu in exon 12 of OTOG: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (95/11746) of East Asian chrom osomes including 2 homozygotes by the Genome Aggregation Database (gnomAD, http: //gnomad.broadinstitute.org; dbSNP rs189947237).

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