ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.2299G>T (p.Val767Leu)

dbSNP: rs1237902622
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001874455 SCV002130964 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2021-09-14 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. 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. This variant has not been reported in the literature in individuals affected with PIGO-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 767 of the PIGO protein (p.Val767Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine.

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