ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.1619C>A (p.Ala540Glu)

gnomAD frequency: 0.00002  dbSNP: rs1488869656
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001339730 SCV001533496 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with glutamic acid at codon 540 of the PIGO protein (p.Ala540Glu). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and glutamic acid. This variant is not present in population databases (ExAC no frequency). 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 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.

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