ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.1801A>G (p.Thr601Ala)

dbSNP: rs2131075982
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001970442 SCV002253156 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2021-09-21 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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: "Benign"; Align-GVGD: "Class C0". The alanine 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 threonine with alanine at codon 601 of the PIGO protein (p.Thr601Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine.

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