Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652055 | SCV000773922 | uncertain significance | Vasculitis due to ADA2 deficiency | 2022-06-20 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 48 of the ADA2 protein (p.Gly48Glu). This variant is present in population databases (rs140149634, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with ADA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 541733). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Genome Diagnostics Laboratory, |
RCV002263906 | SCV002543372 | uncertain significance | Autoinflammatory syndrome | 2021-12-09 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002485474 | SCV002790525 | uncertain significance | Sneddon syndrome; Vasculitis due to ADA2 deficiency | 2022-03-23 | criteria provided, single submitter | clinical testing |