ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.2934T>G (p.Asn978Lys)

dbSNP: rs780217709
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001890233 SCV002141796 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2022-04-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PIGO-related conditions. This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 978 of the PIGO protein (p.Asn978Lys). This variant is not present in population databases (gnomAD no frequency). 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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