Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000760860 | SCV000890756 | likely pathogenic | not provided | 2018-11-23 | criteria provided, single submitter | clinical testing | A variant that is likely pathogenic has been identified in the PIGO gene. The R802X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R802X nonsense variant in the PIGO gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R802X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |
| Labcorp Genetics |
RCV001039522 | SCV001203054 | pathogenic | Hyperphosphatasia with intellectual disability syndrome 2 | 2022-07-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg802*) in the PIGO gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PIGO are known to be pathogenic (PMID: 22683086, 24417746). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PIGO-related conditions. ClinVar contains an entry for this variant (Variation ID: 620478). For these reasons, this variant has been classified as Pathogenic. |