ClinVar Miner

Submissions for variant NM_004278.4(PIGL):c.263G>A (p.Arg88His)

gnomAD frequency: 0.00004  dbSNP: rs755380500
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791119 SCV000930393 uncertain significance CHIME syndrome 2019-04-27 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000791119 SCV001369387 uncertain significance CHIME syndrome 2019-10-30 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001873234 SCV002189395 uncertain significance not provided 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 88 of the PIGL protein (p.Arg88His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs755380500, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with PIGL-related conditions. ClinVar contains an entry for this variant (Variation ID: 638452). 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 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.

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