ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.3493G>A (p.Val1165Ile)

gnomAD frequency: 0.00001  dbSNP: rs372557475
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508785 SCV001715155 uncertain significance not provided 2020-10-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001508785 SCV002585590 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing PLCG2: BP4
Fulgent Genetics, Fulgent Genetics RCV002506590 SCV002817078 uncertain significance Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2021-10-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002567997 SCV003467222 uncertain significance Familial cold autoinflammatory syndrome 3 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1165 of the PLCG2 protein (p.Val1165Ile). This variant is present in population databases (rs372557475, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PLCG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1163585). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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