Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169439 | SCV000220856 | likely pathogenic | Primary hyperoxaluria, type I | 2014-11-06 | criteria provided, single submitter | literature only | |
Invitae | RCV000816747 | SCV000957270 | pathogenic | not provided | 2023-10-11 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 190 of the AGXT protein (p.Gly190Arg). This variant is present in population databases (rs180177239, gnomAD 0.01%). This missense change has been observed in individuals with primary hyperoxaluria (PMID: 9604803, 15849466, 15961946, 27568336, 27935012). It has also been observed to segregate with disease in related individuals. This variant is also known as c.690G>A. ClinVar contains an entry for this variant (Variation ID: 189047). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt AGXT protein function. For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000169439 | SCV001752663 | pathogenic | Primary hyperoxaluria, type I | 2021-06-30 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000169439 | SCV003809004 | pathogenic | Primary hyperoxaluria, type I | 2022-09-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000816747 | SCV003845926 | pathogenic | not provided | 2022-09-25 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27935012, 27568336, 18282470, 15849466, 31589614, 24988064, 23810941, 30341509, 10541294, 25629080, 19571789, 17460142, 9604803) |
Baylor Genetics | RCV000169439 | SCV004196492 | pathogenic | Primary hyperoxaluria, type I | 2023-10-19 | criteria provided, single submitter | clinical testing | |
Clinical Biochemistry Laboratory, |
RCV000169439 | SCV000239656 | pathogenic | Primary hyperoxaluria, type I | 2014-11-27 | no assertion criteria provided | in vitro | |
Natera, |
RCV000169439 | SCV002076464 | pathogenic | Primary hyperoxaluria, type I | 2020-10-05 | no assertion criteria provided | clinical testing |