Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001270715 | SCV001451460 | uncertain significance | Hyperphosphatasia with intellectual disability syndrome 2 | 2019-02-08 | criteria provided, single submitter | clinical testing | The PIGO c.79G>A (p.Gly27Ser) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage so the variant is presumed to be rare. Based on the limited evidence, the p.Gly27Ser variant is classified as a variant of uncertain significance for hyperphosphatasia with intellectual disability syndrome, type 2. |
| Invitae | RCV001270715 | SCV004291097 | uncertain significance | Hyperphosphatasia with intellectual disability syndrome 2 | 2022-11-04 | 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 989247). This variant has not been reported in the literature in individuals affected with PIGO-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 27 of the PIGO protein (p.Gly27Ser). |