rs1057518187

Description

The Y198X variant in the SOX11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function as the last 244 amino acids are deleted. The Y198X variant was not observed in approximately 5300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret Y198X as a pathogenic variant.