Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001233621 | SCV001406223 | uncertain significance | Hyperphosphatasia with intellectual disability syndrome 2 | 2021-02-04 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PIGO-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with phenylalanine at codon 651 of the PIGO protein (p.Ser651Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. |
| Ambry Genetics | RCV002567884 | SCV003560699 | uncertain significance | Inborn genetic diseases | 2021-07-13 | criteria provided, single submitter | clinical testing | The c.1952C>T (p.S651F) 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 1952, causing the serine (S) at amino acid position 651 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |