ClinVar Miner

Submissions for variant NM_004278.4(PIGL):c.4G>A (p.Glu2Lys)

gnomAD frequency: 0.00008  dbSNP: rs150000731
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147265 SCV000194636 uncertain significance CHIME syndrome 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002515974 SCV003487795 uncertain significance not provided 2022-08-31 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 159711). This variant has not been reported in the literature in individuals affected with PIGL-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 2 of the PIGL protein (p.Glu2Lys). This variant is present in population databases (rs150000731, gnomAD 0.03%).
Mayo Clinic Laboratories, Mayo Clinic RCV002515974 SCV005412673 uncertain significance not provided 2024-07-17 criteria provided, single submitter clinical testing BP4, PM2

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