Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000186398 | SCV000486725 | likely pathogenic | Primary hyperoxaluria, type I | 2016-07-26 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001238262 | SCV001411063 | pathogenic | not provided | 2024-01-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu193Phefs*19) 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 present in population databases (rs754693216, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with hyperoxaluria (PMID: 30488096). ClinVar contains an entry for this variant (Variation ID: 204191). For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001844078 | SCV002104105 | pathogenic | Primary hyperoxaluria | 2022-02-25 | criteria provided, single submitter | clinical testing | Variant summary: AGXT c.577delC (p.Leu193PhefsX19) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 249482 control chromosomes. c.577delC has been reported in the literature in individuals affected with Primary Hyperoxaluria Type 1 (Williams_2015, Chen_2021). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Fulgent Genetics, |
RCV000186398 | SCV002778148 | pathogenic | Primary hyperoxaluria, type I | 2022-02-24 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000186398 | SCV004192828 | pathogenic | Primary hyperoxaluria, type I | 2023-01-04 | criteria provided, single submitter | clinical testing | |
| Clinical Biochemistry Laboratory, |
RCV000186398 | SCV000239748 | pathogenic | Primary hyperoxaluria, type I | 2014-11-27 | no assertion criteria provided | research | |
| Natera, |
RCV000186398 | SCV002076465 | pathogenic | Primary hyperoxaluria, type I | 2020-02-21 | no assertion criteria provided | clinical testing |