Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674567 | SCV000799925 | uncertain significance | Argininosuccinate lyase deficiency | 2018-05-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000674567 | SCV001564134 | uncertain significance | Argininosuccinate lyase deficiency | 2021-09-17 | criteria provided, single submitter | clinical testing | This sequence change replaces tryptophan with cysteine at codon 169 of the ASL protein (p.Trp169Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is present in population databases (rs759952363, ExAC 0.005%). This variant has been observed in individual(s) with ASL-related conditions (PMID: 31943503). ClinVar contains an entry for this variant (Variation ID: 203612). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV000674567 | SCV002814439 | uncertain significance | Argininosuccinate lyase deficiency | 2021-08-06 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000674567 | SCV004201095 | likely pathogenic | Argininosuccinate lyase deficiency | 2023-07-03 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000674567 | SCV002076008 | uncertain significance | Argininosuccinate lyase deficiency | 2019-10-28 | no assertion criteria provided | clinical testing |