Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001857590 | SCV002299845 | likely pathogenic | not provided | 2021-11-30 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Arg233 amino acid residue in AGXT. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9192270, 17495019, 18282470, 18448374, 18782763). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt AGXT protein function. ClinVar contains an entry for this variant (Variation ID: 204123). This missense change has been observed in individual(s) with hyperoxaluria (PMID: 15849466). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 233 of the AGXT protein (p.Arg233Leu). |
| Clinical Biochemistry Laboratory, |
RCV000186329 | SCV000239672 | pathogenic | Primary hyperoxaluria, type I | 2014-11-27 | no assertion criteria provided | research |