In a screen of 23 unrelated families, this variant was seen in one case compound heterozygous with 453L (family 21). The authors, however, consider this to be a nonpathogenic variant linked to some unknown causal variant in the family, as the 654S variant was also seen in 1 out of 80 random control chromosomes.
A case report of a patient with autosomal recessive renal glucosuria, with non-consanguineous parents. The patient had a frameshift mutation compound heterozygous with this variant. One unaffected sister had the frameshift variant but not this variant. Neither variant was seen in 50 healthy control individuals (100 alleles).
A case report of a patient compound heterozygous for this variant and T200K. This variant was seen once in a Caucasian in a set of 158 control chromosomes.
A screen of 24 individuals from 17 families found this variant heterozygously in three of the 17 families. No controls are reported in this paper.