Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV001195517 | SCV001365895 | uncertain significance | not specified | 2019-08-28 | criteria provided, single submitter | clinical testing | The p.Val2073Leu variant in OTOG has not been previously reported in individuals with hearing loss but has been identified in 0.06% (1/1560) of East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, BP4. |