Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523692 | SCV000620143 | uncertain significance | not provided | 2017-08-22 | criteria provided, single submitter | clinical testing | The A226T variant in the AGXT gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A226T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A226T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret A226T as a variant of uncertain significance. |
Natera, |
RCV001834701 | SCV002076474 | uncertain significance | Primary hyperoxaluria, type I | 2020-01-27 | no assertion criteria provided | clinical testing |