ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.1333C>T (p.Arg445Cys)

gnomAD frequency: 0.00001  dbSNP: rs779260324
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001912031 SCV002139844 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 445 of the PIGO protein (p.Arg445Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs779260324, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with PIGO-related conditions. 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 disruptive. 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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