Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV001195509 | SCV001365887 | uncertain significance | not specified | 2019-03-13 | criteria provided, single submitter | clinical testing | The p.Val1561Met variant in OTOF has not been previously reported in individuals with hearing loss or auditory neuropathy spectrum disorder, but has been identified in 0.0008% (1/113742) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2. |