ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.7459G>C (p.Gly2487Arg) (rs771765463)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000607363 SCV000712022 uncertain significance not specified 2016-04-18 criteria provided, single submitter clinical testing The p.Gly2487Arg variant in OTOG has not been previously in individuals with hea ring loss. Data from large population studies is insufficient to assess the freq uency of this variant. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical signific ance of the p.Gly2487Arg variant is uncertain.

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