ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.1353C>A (p.Phe451Leu)

dbSNP: rs189947237
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Total submissions: 3
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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, Mass General Brigham 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).
Labcorp Genetics (formerly Invitae), Labcorp RCV002060272 SCV002406570 benign not provided 2024-01-23 criteria provided, single submitter clinical testing

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