ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.1487C>T (p.Ala496Val)

gnomAD frequency: 0.00004  dbSNP: rs763688561
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242398 SCV001415484 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 496 of the PIGO protein (p.Ala496Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs763688561, ExAC 0.01%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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