Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Genetics Lab, |
RCV000660880 | SCV000759159 | likely pathogenic | Intellectual disability, mild | 2019-02-20 | criteria provided, single submitter | clinical testing | The p.Phe66Leu variant is de novo, it is absent in population databases and it involves a higly conserved residue in the HMG box DNA-binding domain of the protein. Three further patients were identified with de novo missense variants affecting the HMG box DNA-binding domain of SOX4. Intellectual disability and similar facial dysmorphisms were present in all four. Functional assays demonstrated that SOX4 proteins carrying these four variants are unable to bind DNA in vitro and transactivate SOX reporter genes in cultured cells. |
OMIM | RCV000787353 | SCV000926315 | pathogenic | Coffin-Siris syndrome 10 | 2023-02-02 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV001261716 | SCV001439025 | likely pathogenic | Intellectual disability; Developmental delay; Mild facial and digital morphological abnormalities | no assertion criteria provided | research |