ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.3107G>A (p.Arg1036Lys)

dbSNP: rs764658486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000815126 SCV000955571 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 1036 of the PIGO protein (p.Arg1036Lys). This variant is present in population databases (rs764658486, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with PIGO-related conditions. ClinVar contains an entry for this variant (Variation ID: 658322). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PIGO protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV000815126 SCV002789195 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2021-11-16 criteria provided, single submitter clinical testing

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