Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV001195271 | SCV001365580 | uncertain significance | not specified | 2019-08-28 | criteria provided, single submitter | clinical testing | The p.Thr1170Ile variant in USH2A has not been previously reported in individuals with Usher syndrome and was absent from large population studies. Computational prediction tools and conservation analyses 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. |