Reported by ClinVar to cause disease (https://www.ncbi.nlm.nih.gov/clinvar/variation/201577/). The condition is unspecified in ClinVar, but other variants in this gene cause dominantly-inherited heart diseases, including Brugada syndrome, familial dilated cardiomyopathy, and Romano-Ward syndrom.
In ClinVar this variant is reported as “pathogenic” by GeneDx. However, it is classified as “uncertain significance” by the Stanford Center for Inherited Cardiovascular Disease. Neither ClinVar submission includes references to published literature. The frequency of this variant is extremely rare according to ExAC data (http://exac.broadinstitute.org/variant/3-38645213-G-A).