Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002917448 | SCV003249078 | uncertain significance | Hyperphosphatasia with intellectual disability syndrome 2 | 2022-06-13 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 95 of the PIGO protein (p.Pro95Ser). 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with PIGO-related conditions. This variant is present in population databases (rs753828709, gnomAD 0.02%). |
| Ambry Genetics | RCV004654045 | SCV005153610 | uncertain significance | Inborn genetic diseases | 2024-05-07 | criteria provided, single submitter | clinical testing | The c.283C>T (p.P95S) alteration is located in exon 2 (coding exon 1) of the PIGO gene. This alteration results from a C to T substitution at nucleotide position 283, causing the proline (P) at amino acid position 95 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |