ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.2018G>C (p.Cys673Ser)

dbSNP: rs1829439353
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001890184 SCV002137716 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2021-06-28 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 673 of the PIGO protein (p.Cys673Ser). The cysteine residue is moderately conserved and there is a moderate physicochemical difference between cysteine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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