Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |