Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001058729 | SCV001223320 | uncertain significance | Adenylosuccinate lyase deficiency | 2020-01-27 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs768596079, ExAC 0.001%). This sequence change replaces glycine with glutamic acid at codon 116 of the ADSL protein (p.Gly116Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant has not been reported in the literature in individuals with ADSL-related conditions. 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). |