ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.1183G>A (p.Glu395Lys)

dbSNP: rs1060499666
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000449490 SCV000537735 likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 2 2014-08-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000449490 SCV002180679 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 2 2020-11-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 395 of the PIGA protein (p.Glu395Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of PIGA-congenital disorder of glycosylation (PMID: 27353043). This variant is also known as c.481G>A (p.Glu161Lys). ClinVar contains an entry for this variant (Variation ID: 397534). This variant is not present in population databases (ExAC no frequency).

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