ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.2578G>A (p.Val860Ile)

gnomAD frequency: 0.00004  dbSNP: rs370187601
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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 RCV002012269 SCV002237369 uncertain significance Familial cold autoinflammatory syndrome 3 2023-11-24 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 860 of the PLCG2 protein (p.Val860Ile). This variant is present in population databases (rs370187601, gnomAD 0.01%). 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: 1448911). 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. 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 RCV002507679 SCV002815825 uncertain significance Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2022-03-30 criteria provided, single submitter clinical testing

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