ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3290T>C (p.Ile1097Thr)

gnomAD frequency: 0.00001  dbSNP: rs764162969
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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 RCV000216548 SCV000272234 uncertain significance not specified 2016-02-02 criteria provided, single submitter clinical testing The p.Ile1097Thr variant in OTOF has not been previously reported in individuals with hearing loss, but has been identified in 1/11514 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs764 162969). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. This variant is locate d at the second nucleotide of the exon, which is part of the 3' splice region. Computational tools do not predict an impact to splicing; however, this data is not predictive enough to rule out pathogenicity. In summary, the clinical signif icance of the p.Ile1097Thr variant is uncertain.

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