ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3091A>G (p.Ile1031Val)

gnomAD frequency: 0.00006  dbSNP: rs113433719
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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, Mass General Brigham Personalized Medicine RCV000607013 SCV000711177 uncertain significance not specified 2016-06-07 criteria provided, single submitter clinical testing The p.Ile1031Val variant in OTOF has not been previously reported in individuals with hearing loss. This variant has been identified in 1/8600 European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS/; dbSNP rs113433719). Although this variant has been seen in the general po pulation, its frequency is not high enough to rule out a pathogenic role. Comput ational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determi ne pathogenicity. In summary, the clinical significance of the p.Ile1031Val vari ant is uncertain.

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