ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.679G>A (p.Val227Met)

gnomAD frequency: 0.00001  dbSNP: rs769793664
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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 RCV001364449 SCV001560598 uncertain significance Familial cold autoinflammatory syndrome 3 2023-04-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PLCG2-related conditions. This variant is present in population databases (rs769793664, gnomAD 0.004%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 227 of the PLCG2 protein (p.Val227Met). ClinVar contains an entry for this variant (Variation ID: 1055726). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated.
Fulgent Genetics, Fulgent Genetics RCV002493860 SCV002782287 uncertain significance Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2021-12-18 criteria provided, single submitter clinical testing

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