This variant is found with an allelic frequency of 0.04 in a population in Brazil. The authors classify it as a benign polymorphism.
This variant is identified in a homozygous fashion in a Moroccan female with GM1-gangliosidosis. Onset was at 27y. Expression studies showed that the mutation led to a decrease in protein expression to 25% of wild type, mimicking the blood work of the patient. Frequency in 200 control chromosomes was less than 0.01.