Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001382062 | SCV001580669 | pathogenic | not provided | 2019-04-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in AGXT are known to be pathogenic (PMID: 19479957). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in multiple individuals affected with primary hyperoxaluria, type 1 (PMID: 10541294, 27644547, Invitae). ClinVar contains an entry for this variant (Variation ID: 204142). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg333*) in the AGXT gene. It is expected to result in an absent or disrupted protein product. |
Revvity Omics, |
RCV000186349 | SCV003816741 | pathogenic | Primary hyperoxaluria, type I | 2022-06-28 | criteria provided, single submitter | clinical testing | |
Clinical Biochemistry Laboratory, |
RCV000186349 | SCV000239695 | pathogenic | Primary hyperoxaluria, type I | 2014-11-27 | no assertion criteria provided | research | |
Natera, |
RCV000186349 | SCV002076483 | pathogenic | Primary hyperoxaluria, type I | 2021-03-15 | no assertion criteria provided | clinical testing |