Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000487095 | SCV000568827 | likely pathogenic | not provided | 2023-08-25 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate that this variant results in the production of a truncated protein with disrupted function (Krawitz et al., 2012); Frameshift variant predicted to result in protein truncation as the last 302 amino acids are replaced with 4 different amino acids, and other loss-of-function variants have been reported downstream of this position in the protein; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23940540, 28545593, 22683086) |
| Labcorp Genetics |
RCV000029246 | SCV002220149 | pathogenic | Hyperphosphatasia with intellectual disability syndrome 2 | 2022-09-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 35600). This premature translational stop signal has been observed in individual(s) with hyperphosphatasia with intellectual disability syndrome (PMID: 22683086). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr788Hisfs*5) 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). |
| OMIM | RCV000029246 | SCV000051892 | pathogenic | Hyperphosphatasia with intellectual disability syndrome 2 | 2012-07-13 | no assertion criteria provided | literature only |