ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.859G>A (p.Gly287Arg)

gnomAD frequency: 0.00002  dbSNP: rs780295527
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002015006 SCV002282552 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 287 of the PIGO protein (p.Gly287Arg). This variant is present in population databases (rs780295527, gnomAD 0.0008%). 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: 1494446). 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 C15"). 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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