ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.1442C>G (p.Pro481Arg)

dbSNP: rs1563997847
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695481 SCV000823983 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2018-04-26 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 481 of the PIGO protein (p.Pro481Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. 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 disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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