Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000186348 | SCV000487124 | likely pathogenic | Primary hyperoxaluria, type I | 2016-10-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001857591 | SCV002223988 | pathogenic | not provided | 2021-02-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with primary hyperoxaluria (PMID: 25629080). ClinVar contains an entry for this variant (Variation ID: 204141). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp332*) in the AGXT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AGXT are known to be pathogenic (PMID: 19479957). |
Clinical Biochemistry Laboratory, |
RCV000186348 | SCV000239694 | pathogenic | Primary hyperoxaluria, type I | 2014-11-27 | no assertion criteria provided | in vivo |