ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.1927G>A (p.Glu643Lys)

dbSNP: rs369499442
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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 RCV001918482 SCV002180461 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 643 of the PIGO protein (p.Glu643Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. 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 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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