ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.929C>A (p.Thr310Asn)

dbSNP: rs770257536
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002001658 SCV002272352 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2021-10-13 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 310 of the PIGO protein (p.Thr310Asn). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and asparagine. This variant is present in population databases (rs770257536, ExAC 0.006%). 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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