ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.1861G>T (p.Ala621Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003646767 SCV004472094 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2023-04-12 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. This variant has not been reported in the literature in individuals affected with PIGO-related conditions. This variant is present in population databases (rs780889930, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 621 of the PIGO protein (p.Ala621Ser).

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