ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.617C>T (p.Thr206Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002643332 SCV002985265 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2022-06-28 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 206 of the PIGO protein (p.Thr206Ile). This variant is present in population databases (rs750723712, gnomAD 0.02%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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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