ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.3395T>C (p.Leu1132Pro) (rs757588809)

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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, Partners HealthCare Personalized Medicine RCV000604848 SCV000731627 uncertain significance not specified 2017-05-16 criteria provided, single submitter clinical testing The p.Leu1132Pro variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 12/67064 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs757588809). Although this variant has been seen in the general population, it s frequency is not high enough to rule out a pathogenic role. Computational pred iction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogeni city. In summary, the clinical significance of the p.Leu1132Pro variant is uncer tain.
GeneDx RCV001548141 SCV001768000 uncertain significance not provided 2020-12-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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