This variant is implicated in autosomal recessive Leber congenital amaurosis in several patients from diverse ethnicities.
In this study a screen of 35 unrelated patients with juvenile autosomal recessive retinitis pigmentosa (ARRP), Leber’s congenital amaurosis (LCA), or juvenile isolated retinitis pigmentosa (IRP) found two ARRP patients heterozygous for this variant (it looks like they believe these patients to be compound heterozygous with an unknown variant). As this seems to related to LCA, these numbers are included into LCA numbers for case/control calculation.
Screening for mutations in families with this disease found that 11 / 589 patients had this variant vs. 1 / 200 controls. The authors suggest that this is a polymorphism or modifier allele rather than a disease-causing mutation.