Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169425 | SCV000220834 | likely pathogenic | Primary hyperoxaluria, type I | 2014-10-23 | criteria provided, single submitter | literature only | |
Baylor Genetics | RCV000169425 | SCV004194828 | pathogenic | Primary hyperoxaluria, type I | 2023-06-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003556212 | SCV004292190 | pathogenic | not provided | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp246*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with primary hyperoxaluria (PMID: 17495019). ClinVar contains an entry for this variant (Variation ID: 189035). For these reasons, this variant has been classified as Pathogenic. |
Clinical Biochemistry Laboratory, |
RCV000169425 | SCV000239675 | pathogenic | Primary hyperoxaluria, type I | 2014-11-27 | no assertion criteria provided | research |