Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666611 | SCV000790930 | uncertain significance | Arginase deficiency | 2017-04-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000666611 | SCV001576117 | pathogenic | Arginase deficiency | 2023-04-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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 ARG1 protein function. ClinVar contains an entry for this variant (Variation ID: 551529). This missense change has been observed in individual(s) with arginase deficiency (PMID: 27038030, 30285816; Invitae). This variant is present in population databases (rs753829097, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 99 of the ARG1 protein (p.Gly99Arg). |
Gene |
RCV003228976 | SCV003925966 | likely pathogenic | not provided | 2023-05-13 | 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: 27038030, 29726057, 35499206, 30285816) |
Baylor Genetics | RCV000666611 | SCV004206107 | pathogenic | Arginase deficiency | 2023-09-29 | criteria provided, single submitter | clinical testing | |
Kasturba Medical College, |
RCV000666611 | SCV004227895 | likely pathogenic | Arginase deficiency | criteria provided, single submitter | clinical testing |