Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000699892 | SCV000828622 | pathogenic | Hyperphosphatasia with intellectual disability syndrome 2 | 2022-01-15 | 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: 577203). This variant has not been reported in the literature in individuals affected with PIGO-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val424Aspfs*3) 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). |
Gene |
RCV003329331 | SCV004037012 | likely pathogenic | not provided | 2023-03-09 | criteria provided, single submitter | clinical testing | Reported heterozygous in an individual with epilepsy; however, no information was provided as to whether this individual harbored a variant on the other allele (Truty et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31440721) |