In a screen of 512 individuals with inherited retinal degenerative disease, this variant (aka T124I) was found as a compound heterozygote with P376S in an African American child. Controls are not reported for this variant. This variant is conserved in rat and a conservative mutation occurs in the homologue AIP.
In a screen of 303 individuals with Leber congenital amaurosis, this variant was seen as a compound heterozygote in two individuals together with P376S (one American and one French). The author overlap makes it likely that the patient in Sohocki et al. is the same patient. It was not seen in 205 controls. The French patient had severe pigmentary retinopathy, while the 8yo American had night blindness, was 20/400 with severe maculopathy, mild optic nerve pallor and moderate pigmentary retinopathy.