No known publications, found heterozygously in 4 out of 64 PGP + public genomes (allele frequency of 3.1%). This variant is predicted to be damaging by Polyphen 2 and other variants in this gene are associated with causing primary ciliary dyskinesia, presumably in a recessive manner. OMIM only reports a single case with mutations in this gene (compound heterozygous for L426X and an intronic/splicing mutation). This GeneReviews article gives an incidence of 1 in 16,000: http://www.ncbi.nlm.nih.gov/books/NBK1122/
To test whether our observations of this variant in random controls significantly contradicts a pathogenic hypothesis, we test this variant against a hypothetical pathogenic variant responsible for 10% of PCD cases with moderate (5%) penetrance (1 in 8,000 homozygous, 1 in 160,000 affected) — this hypothetical variant would have an allele frequency of 1.1%. The chances of seeing this variant in 4 out of 128 random alleles is p=0.056.