ClinVar Miner

Submissions for variant NM_003107.3(SOX4):c.198C>A (p.Phe66Leu) (rs1334099693)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 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 2019-07-16 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001261716 SCV001439025 likely pathogenic Intellectual disability; Developmental delay; Mild facial and digital morphological abnormalities no assertion criteria provided research

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