ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.2959G>A (p.Glu987Lys)

dbSNP: rs550176742
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001306483 SCV001495857 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2021-10-21 criteria provided, single submitter clinical testing This variant is present in population databases (rs550176742, ExAC 0.03%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with PIGO-related conditions. This sequence change replaces glutamic acid with lysine at codon 987 of the PIGO protein (p.Glu987Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine.

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