Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000615639 | SCV000713837 | uncertain significance | not specified | 2018-01-30 | criteria provided, single submitter | clinical testing | The p.Gly520Arg variant in TBC1D24 has not been previously reported in individua ls with hearing loss, epilepsy, or DOOR syndrome, and was absent from large popu lation studies. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not pr edictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Gly520Arg variant is uncertain. ACMG/AMP Criteria applied: PM2; BP4. |