ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.2867G>A (p.Arg956His)

gnomAD frequency: 0.00001  dbSNP: rs376030995
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002007736 SCV002260660 uncertain significance Familial cold autoinflammatory syndrome 3 2021-06-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 956 of the PLCG2 protein (p.Arg956His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs376030995, ExAC 0.006%). 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PLCG2-related conditions.
Fulgent Genetics, Fulgent Genetics RCV002479633 SCV002789870 uncertain significance Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2022-05-18 criteria provided, single submitter clinical testing

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