Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001857588 | SCV002273421 | likely pathogenic | not provided | 2021-11-18 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with hyperoxaluria (PMID: 25629080). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 70 of the AGXT protein (p.Thr70Asn). ClinVar contains an entry for this variant (Variation ID: 204081). 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. 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. |
| Clinical Biochemistry Laboratory, |
RCV000186287 | SCV000239616 | pathogenic | Primary hyperoxaluria, type I | 2014-11-27 | no assertion criteria provided | in vivo |