ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.94+76C>T

gnomAD frequency: 0.00010  dbSNP: rs568988885
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195514 SCV001365892 uncertain significance not specified 2019-06-28 criteria provided, single submitter clinical testing The p.Ala57Val variant in OTOG has not been previously reported in individuals with hearing loss and was absent from large population studies. Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, BP4.
GeneDx RCV002222674 SCV002499934 uncertain significance not provided 2021-10-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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