ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.3650A>G (p.Tyr1217Cys)

gnomAD frequency: 0.00003  dbSNP: rs373013824
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001048396 SCV001212397 uncertain significance Familial cold autoinflammatory syndrome 3 2023-07-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PLCG2-related conditions. This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1217 of the PLCG2 protein (p.Tyr1217Cys). This variant is present in population databases (rs373013824, gnomAD 0.004%). ClinVar contains an entry for this variant (Variation ID: 845350). 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 disruptive. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV002261261 SCV002541341 uncertain significance not provided 2021-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481941 SCV002791537 uncertain significance Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2021-12-15 criteria provided, single submitter clinical testing

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