ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.8074G>A (p.Glu2692Lys) (rs758935605)

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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 RCV000215119 SCV000272268 uncertain significance not specified 2015-06-16 criteria provided, single submitter clinical testing The p.Glu2692Lys variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 0.1% (10/7590) of South Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg). Although this variant has been seen in the general population, its frequenc y is not high enough to rule out a pathogenic role. Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. In summary, the clinical significance of the p.Glu2692Lys va riant is uncertain.

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