ClinVar

Description

This variant, c.1229_1234delAGCACA, results in the deletion of 2 amino acid(s) of the ZIC2 protein (p.Lys410_His411del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected developmental delay, posterior ureteral valves, laryngomalacia, dysphagia, cardiac arrest, pyriform aperture stenosis with a central incisor, rhomboencephalosynapsis and absence of the posterior pituitary bright spot (Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.