Reported to cause holoprosencephaly in a dominant manner, causing facial and brain deformity. This comes from a ClinVar entry, where it is reported by GeneReviews (http://www.ncbi.nlm.nih.gov/clinvar/RCV000056099/).
other variants in this gene cause this disease, this variant is expected to be highly disruptive
no familial data available
severity can vary – sometimes lethal before birth, but sometimes milder
High clinical importance, Uncertain pathogenic
(The "high clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary