Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000814805 | SCV000955232 | uncertain significance | Hyperphosphatasia with intellectual disability syndrome 2 | 2022-07-12 | 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: 658063). This variant has not been reported in the literature in individuals affected with PIGO-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 540 of the PIGO protein (p.Ala540Pro). |
| Ambry Genetics | RCV003380746 | SCV004090420 | uncertain significance | Inborn genetic diseases | 2023-09-06 | criteria provided, single submitter | clinical testing | The c.1618G>C (p.A540P) alteration is located in exon 7 (coding exon 6) of the PIGO gene. This alteration results from a G to C substitution at nucleotide position 1618, causing the alanine (A) at amino acid position 540 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |