The two patients had both died young from heart problems. When researchers looked at their DNA, they spotted another commonality: The two shared a particular version of a gene that helps the heart beat. Perhaps, the researchers thought, the variant could explain their heart conditions.
Genomic datasets indicated the variant was rare, meaning it could be the cause of a rare disease. While most other labs that had seen the variant weren’t sure what it meant, one indicated it was likely disease-causing.
The researchers set out to find out for sure. And after surveying labs around the world, poring through papers, and digging through datasets, the team found that the variant was in fact a harmless spelling of the gene in question. What’s more — it turned out the variant was not so rare after all.