Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001174889 | SCV001338311 | pathogenic | Primary hyperoxaluria | 2020-02-17 | criteria provided, single submitter | clinical testing | Variant summary: AGXT c.126delG (p.Leu43CysfsX3) 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 allele was found at a frequency of 1.2e-05 in 247266 control chromosomes. c.126delG has been reported in the literature in at least one individual affected with Primary Hyperoxaluria Type 1 (Williams_2007). These data indicate that the variant may be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in <10% of normal activity (Williams_2007). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Invitae | RCV001215991 | SCV001387762 | pathogenic | not provided | 2022-07-02 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 204176). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of hyperoxaluria (PMID: 17495019). This variant is present in population databases (rs765811788, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Leu43Cysfs*3) 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). |
| Fulgent Genetics, |
RCV000186383 | SCV002799059 | likely pathogenic | Primary hyperoxaluria, type I | 2021-10-01 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000186383 | SCV004196525 | pathogenic | Primary hyperoxaluria, type I | 2023-10-17 | criteria provided, single submitter | clinical testing | |
| Clinical Biochemistry Laboratory, |
RCV000186383 | SCV000239733 | pathogenic | Primary hyperoxaluria, type I | 2014-11-27 | no assertion criteria provided | research |