Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000826001 | SCV000967489 | uncertain significance | not specified | 2019-02-06 | criteria provided, single submitter | clinical testing | The p.Ala107Gly variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 0.02% (4/15500) of African 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_Supporting. |