In a study of ten families, one large consanguineous and two small Pakistani families are reported to have this variant homozygously associated with autosomal recessive cone-rod dystrophy. The authors mention 100 ethnically matched controls but it unclear if they tested this variant. The combined LOD for these is 6.2 (4.96 + 0.6 + 0.6).
A screen of 17 ARRP, nine LCA, and nine IRP patients and 60 controls this variant had similar allele frequencies of 14% in patients and 13% in controls. This indicates the variant is not causal.