Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000020369 | SCV000814415 | uncertain significance | Autoimmune lymphoproliferative syndrome type 1 | 2022-07-05 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 156 of the FASLG protein (p.Arg156Gly). This variant is present in population databases (rs80358238, gnomAD 0.01%). This missense change has been observed in individual(s) with autoimmune lymphoproliferative syndrome (ALPS) (PMID: 17605793). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 21212). 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 C0"). Experimental studies have shown that this missense change affects FASLG function (PMID: 17605793). 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, |
RCV002476995 | SCV000894670 | uncertain significance | Autoimmune lymphoproliferative syndrome type 1; Lung cancer | 2022-04-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000020369 | SCV000040757 | not provided | Autoimmune lymphoproliferative syndrome type 1 | no assertion provided | literature only |