ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.1789C>A (p.Pro597Thr)

dbSNP: rs1829451050
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001312339 SCV001502787 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2020-08-07 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 597 of the PIGO protein (p.Pro597Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PIGO-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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