Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000801932 | SCV000941737 | uncertain significance | Vasculitis due to ADA2 deficiency | 2022-06-20 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 193 of the ADA2 protein (p.Pro193Leu). This variant is present in population databases (rs199567025, gnomAD 0.01%). This missense change has been observed in individual(s) with deficiency of adenosine deaminase 2 (PMID: 25278816, 31584751). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 647422). 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, |
RCV002263991 | SCV002543395 | uncertain significance | Autoinflammatory syndrome | 2021-09-13 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495079 | SCV002792495 | uncertain significance | Sneddon syndrome; Vasculitis due to ADA2 deficiency | 2022-03-07 | criteria provided, single submitter | clinical testing |