Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV001449689 | SCV001652941 | likely pathogenic | Rare genetic deafness | 2020-06-16 | criteria provided, single submitter | clinical testing | The p.Trp1047X variant in OTOGL has not been reported in individuals with hearing loss nor in large population studies. This nonsense variant leads to a premature termination codon at position 1047, which is predicted to lead to a truncated or absent protein. Loss of function of the OTOGL gene is an established disease mechanism in autosomal recessive hearing loss. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive hearing loss. ACMG/AMP Criteria applied: PVS1, PM2. |