Unreported, predicted to be damaging. Other recessive mutations in this gene cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (a severe genetic disorder, usually lethal by age 50).
Polyphen 2 predicts damaging effect
No case control data
No familial data
Death usually by age 50 (Genetests)
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
Other recessive substitution variants in this gene are reported to cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Polyphen 2 predicts damaging effect for this variant. Because it is seen in only one individual and is unreported upon, it is tentatively evaluated as possibly causing the same disease in a recessive manner.
huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr6:41129252