Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001192772 | SCV001361100 | pathogenic | Primary hyperoxaluria | 2023-03-02 | criteria provided, single submitter | clinical testing | Variant summary: AGXT c.577dupC (p.Leu193ProfsX32) 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.577dupC has been reported in the literature in multiple individuals affected with Primary Hyperoxaluria Type 1 (Williams_2009, Williams_2015, Abid_2022). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One (other) submitter has provided a clinical-significance assessment for this variant to ClinVar after 2014, and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Labcorp Genetics |
RCV001852428 | SCV002232048 | pathogenic | not provided | 2024-06-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu193Profs*32) 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: 19479957, 37464296). ClinVar contains an entry for this variant (Variation ID: 204192). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV000186399 | SCV004192695 | pathogenic | Primary hyperoxaluria, type I | 2023-11-28 | criteria provided, single submitter | clinical testing | |
| Clinical Biochemistry Laboratory, |
RCV000186399 | SCV000239749 | pathogenic | Primary hyperoxaluria, type I | 2014-11-27 | no assertion criteria provided | research |