This variant, present in all versions, was found in one patient with autosomal recessive Charcot-Marie-Tooth type 4B, but the compounding variant was not found. It was also seen in the unaffected sister of proband. 181 probands were screened and 187 controls (384 control chromosomes). This patient was one of 20 with a subclass of disease called congenital hypomyelinating neuropathy (CHN). The OR for this subgroup would be 9.4. The authors conclude that this may be a recessive variant with the second mutation not found, or a rare polymorphism.