Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000002534 | SCV003443195 | uncertain significance | Hyperammonemia, type III | 2022-03-29 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 430 of the NAGS protein (p.Leu430Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with N-acetylglutamate synthase (NAGS) deficiency (PMID: 12754705, 27037498). ClinVar contains an entry for this variant (Variation ID: 2432). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). Experimental studies have shown that this missense change affects NAGS function (PMID: 15878741, 27037498). 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. |
Baylor Genetics | RCV000002534 | SCV004199463 | likely pathogenic | Hyperammonemia, type III | 2024-03-29 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000002534 | SCV000022692 | pathogenic | Hyperammonemia, type III | 2007-08-01 | no assertion criteria provided | literature only |