ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.7846C>T (p.Arg2616Cys) (rs876657944)

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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 RCV000215550 SCV000272265 uncertain significance not specified 2015-10-22 criteria provided, single submitter clinical testing The p.Arg2616Cys variant in OTOG has not been previously reported in individuals with hearing loss. Data from large population studies is insufficient to assess the frequency of this variant. Computational prediction tools and conservation analysis suggest that the Arg2616Cys variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, th e clinical significance of the p.Arg2616Cys variant is uncertain.

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