Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001225511 | SCV001397793 | pathogenic | not provided | 2023-09-06 | criteria provided, single submitter | clinical testing | This sequence change affects the initiator methionine of the AGXT mRNA. The next in-frame methionine is located at codon 38. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. Disruption of the initiator codon has been observed in individuals with hyperoxaluria (PMID: 15365967, 29456205). ClinVar contains an entry for this variant (Variation ID: 204172). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that disruption of the initiator codon affects AGXT function (PMID: 17495019). This variant disrupts the p.Arg36 amino acid residue in AGXT. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 29110180, 30341509). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV000186379 | SCV002809933 | pathogenic | Primary hyperoxaluria, type I | 2022-02-01 | criteria provided, single submitter | clinical testing | |
| Clinical Biochemistry Laboratory, |
RCV000186379 | SCV000239727 | pathogenic | Primary hyperoxaluria, type I | 2014-11-27 | no assertion criteria provided | in vitro |