Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514184 | SCV000610170 | likely pathogenic | not provided | 2017-09-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001857865 | SCV002201475 | uncertain significance | Hyperphosphatasia with intellectual disability syndrome 5 | 2022-08-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg216*) in the PIGW gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 289 amino acid(s) of the PIGW protein. This variant is present in population databases (rs147622852, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with PIGW-related conditions. ClinVar contains an entry for this variant (Variation ID: 445616). 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. |
New York Genome Center | RCV001857865 | SCV002506841 | likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 5 | 2021-05-27 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001857865 | SCV003834864 | likely pathogenic | Hyperphosphatasia with intellectual disability syndrome 5 | 2021-03-12 | criteria provided, single submitter | clinical testing |