Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000527623 | SCV000652686 | uncertain significance | Hyperphosphatasia with intellectual disability syndrome 2 | 2022-08-23 | 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. ClinVar contains an entry for this variant (Variation ID: 473223). This variant has not been reported in the literature in individuals affected with PIGO-related conditions. This variant is present in population databases (rs762428877, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 745 of the PIGO protein (p.Arg745Trp). |
| Ambry Genetics | RCV002530210 | SCV003624364 | uncertain significance | Inborn genetic diseases | 2022-05-18 | criteria provided, single submitter | clinical testing | The c.2233C>T (p.R745W) alteration is located in exon 7 (coding exon 6) of the PIGO gene. This alteration results from a C to T substitution at nucleotide position 2233, causing the arginine (R) at amino acid position 745 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |