This variant is a one base deletion predicted to cause a frameshift in VPS13B. Other loss of function variants in this gene are reported to cause Cohen syndrome in a recessive manner, a rare genetic disorder causing obesity, mental retardation and craniofacial dysmorphism. This variant would be predicted to have the same effect if homozygous or compound heterozygous with another disruptive variant.

According to Kolehmainen, et al 2004 this was seen homozygously in a pair of siblings from a family with Cohen syndrome, in a screen of 76 patients from 59 families.

Tentatively evaluated as benign. Polyphen 2 predicts damaging, and other recessive variants in this gene cause Cohen syndrome, but these are almost always more severely disruptive nonsense, frameshift, or splicing mutations.