ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.79G>A (p.Gly27Ser)

dbSNP: rs1829630935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001270715 SCV001451460 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2019-02-08 criteria provided, single submitter clinical testing The PIGO c.79G>A (p.Gly27Ser) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage so the variant is presumed to be rare. Based on the limited evidence, the p.Gly27Ser variant is classified as a variant of uncertain significance for hyperphosphatasia with intellectual disability syndrome, type 2.
Labcorp Genetics (formerly Invitae), Labcorp RCV001270715 SCV004291097 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2024-09-30 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 27 of the PIGO protein (p.Gly27Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PIGO-related conditions. ClinVar contains an entry for this variant (Variation ID: 989247). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PIGO protein function. 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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