Rs74315329

rs74315329, also known as Q168X and Gln368Ter, is a nonsense mutation in the MYOC gene on chromosome 1.

The rs74315329(T) allele (in dbSNP orientation) has been reported to be a pathogenic autosomal dominant mutation leading to primary open angle glaucoma with either early-onset or juvenile onset.ClinVar

However, other reports indicate that inheritance does not follow a simple dominant model, and full sequencing has incidentally uncovered several adults who harbor this mutation yet who lack a significant family history and also do not show show signs of glaucoma, at least at the time of examination.