ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.6551G>A (p.Arg2184His) (rs555068328)

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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 RCV000607372 SCV000712131 uncertain significance not specified 2016-05-27 criteria provided, single submitter clinical testing The p.Arg2184His variant in OTOG has not been previously reported in individuals with hearing loss. This variant has been identified in 1/5862 European chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs555068328); however, its frequency is not high enough to rule out a path ogenic role. Computational prediction tools and conservation analyses suggest th at this variant may impact the protein, though this information is not predictiv e enough to determine pathogenicity. In summary, the clinical significance of th e p.Arg2184His variant is uncertain.
GeneDx RCV001559422 SCV001781642 uncertain significance not provided 2021-05-27 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; This variant is associated with the following publications: (PMID: 27535533)

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