ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.14C>T (p.Ala5Val) (rs1018902503)

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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 RCV000611036 SCV000712163 uncertain significance not specified 2016-06-07 criteria provided, single submitter clinical testing The p.Ala5Val variant in OTOG has not been previously reported in individuals wi th hearing loss, and data from large population studies are insufficient to asse ss the frequency of this variant. Computational prediction tools and conservati on analyses suggest that this variant may not impact the protein, though this in formation is not predictive enough to rule out pathogenicity. In summary, the c linical significance of the p.Ala5Val variant is uncertain.

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