Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV002222444 | SCV002499931 | pathogenic | not provided | 2021-10-15 | criteria provided, single submitter | clinical testing | Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 547 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26942287) |
| ARUP Laboratories, |
RCV000210329 | SCV005877407 | likely pathogenic | Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 2024-01-03 | criteria provided, single submitter | clinical testing | The POGZ c.2590C>T; p.Arg864Ter variant (rs756659230, ClinVar Variation ID: 224723) has been reported in an individual with White-Sutton syndrome (Stessman 2016). This variant is absent from the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be likely pathogenic. References: Stessman HF et al. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. Am J Hum Genet. 2016 Mar 3;98(3):541-552. PMID: 26942287. |
| OMIM | RCV000210329 | SCV000266366 | pathogenic | Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 2022-03-29 | no assertion criteria provided | literature only |