Reported by ClinVar to cause spermatogenic failure and male infertility (https://www.ncbi.nlm.nih.gov/clinvar/variation/50909/). In ClinVar this variant is reported as “pathogenic” (causing this condition) by a single source, OMIM, which cites Dirami et al 2013 (https://www.ncbi.nlm.nih.gov/pubmed/23582645).
Dirami et al found this variant heterozygous in one of 146 patients screened with “moderate asthenozoospermia”. The authors also report molecular evidence that this variant disrupts coorporation between this gene product and the CFTR receptor (and their hypothesis is based on the consequences of CFTR variants, which can cause male infertility). This variant is moderately rare: according to ExAC it is carried by roughly 1 in 1400 individuals (http://exac.broadinstitute.org/variant/5-176048219-G-T).
The statistical significance of this report may be weak or absent. Although the authors reported weak statistical significance for enrichment relative to controls (p=0.0329), a replication of their chi-square calculation yields p=0.066, and a two-tailed Fisher’s Exact test produces p=0.18.