ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.257A>G (p.Gln86Arg)

gnomAD frequency: 0.00007  dbSNP: rs112670103
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227290 SCV001399642 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 86 of the PIGO protein (p.Gln86Arg). This variant is present in population databases (rs112670103, gnomAD 0.02%). 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: 954771). 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.
GeneDx RCV001586071 SCV001813035 uncertain significance not provided 2020-05-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV001227290 SCV002798248 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2022-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563110 SCV003723555 uncertain significance Inborn genetic diseases 2021-01-06 criteria provided, single submitter clinical testing The c.257A>G (p.Q86R) alteration is located in exon 2 (coding exon 1) of the PIGO gene. This alteration results from a A to G substitution at nucleotide position 257, causing the glutamine (Q) at amino acid position 86 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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