ClinVar Miner

Submissions for variant NM_000639.3(FASLG):c.466A>G (p.Arg156Gly)

gnomAD frequency: 0.00010  dbSNP: rs80358238
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Total submissions: 3
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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, Fulgent Genetics RCV002476995 SCV000894670 uncertain significance Autoimmune lymphoproliferative syndrome type 1; Lung cancer 2022-04-27 criteria provided, single submitter clinical testing
GeneReviews RCV000020369 SCV000040757 not provided Autoimmune lymphoproliferative syndrome type 1 no assertion provided literature only

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