ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.764T>C (p.Met255Thr)

dbSNP: rs1829550983
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229814 SCV001402271 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2019-10-20 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 255 of the PIGO protein (p.Met255Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PIGO-related conditions.

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