Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668596 | SCV000793225 | uncertain significance | Argininosuccinate lyase deficiency | 2017-08-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000668596 | SCV001585629 | pathogenic | Argininosuccinate lyase deficiency | 2023-07-25 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.007%). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg193 amino acid residue in ASL. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 1705937, 12408190, 24166829, 25778938). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this missense change affects ASL function (PMID: 25778938). 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 ASL protein function. ClinVar contains an entry for this variant (Variation ID: 553200). This missense change has been observed in individuals with argininosuccinate lyase deficiency (PMID: 24166829). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 193 of the ASL protein (p.Arg193Trp). |
Baylor Genetics | RCV000668596 | SCV004201195 | likely pathogenic | Argininosuccinate lyase deficiency | 2023-04-20 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000668596 | SCV002076021 | pathogenic | Argininosuccinate lyase deficiency | 2020-05-13 | no assertion criteria provided | clinical testing |