ClinVar Miner

Submissions for variant NM_004278.4(PIGL):c.725G>C (p.Arg242Pro)

dbSNP: rs750654333
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198454 SCV001369388 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.
Invitae RCV001863126 SCV002270650 uncertain significance not provided 2021-03-03 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PIGL-related conditions. ClinVar contains an entry for this variant (Variation ID: 931657). This variant is present in population databases (rs750654333, ExAC 0.003%). This sequence change replaces arginine with proline at codon 242 of the PIGL protein (p.Arg242Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline.

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