Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001359038 | SCV001554898 | uncertain significance | Hyperphosphatasia with intellectual disability syndrome 2 | 2023-08-04 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 430 of the PIGO protein (p.Gln430Glu). This variant is present in population databases (rs375108991, gnomAD 0.006%). 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: 1051050). 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 not 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. |
| Ambry Genetics | RCV002547709 | SCV003700426 | uncertain significance | Inborn genetic diseases | 2024-05-21 | criteria provided, single submitter | clinical testing | The c.1288C>G (p.Q430E) alteration is located in exon 7 (coding exon 6) of the PIGO gene. This alteration results from a C to G substitution at nucleotide position 1288, causing the glutamine (Q) at amino acid position 430 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |