Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825420 | SCV000966718 | uncertain significance | not specified | 2018-05-21 | criteria provided, single submitter | clinical testing | The p.Arg2788Cys variant in OTOG has not been previously reported in individuals with hearing loss. This variant has been identified in 1/23796 of Latino chromo somes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.o rg; dbSNP rs948010343). Computational prediction tools and conservation analysis suggest that the p.Arg2788Cys variant may impact the protein, though this infor mation is not predictive enough to determine pathogenicity. In summary, the clin ical significance of the p.Arg2788Cys variant is uncertain. ACMG/AMP Criteria ap plied: PM2, PP3. |