a public research recordlast updated 11 September 2026
New here
Start here, and read nothing else until this page makes sense.
Every term is explained the first time it appears. Nothing on this page asks you to already know something.
A variant is not a diagnosis
A variant is a difference in the spelling of a gene, compared with the reference sequence most people carry. Everyone has thousands of them. Some do nothing at all. This one changes a single building block in a protein that matters to the heartbeat, and that is why it gets a name and a laboratory report.
Carrying it is not the same as having Brugada syndrome, and having Brugada syndrome is not the same as being at high risk. Those are three separate statements, and the report you were handed only speaks to the first.
Reading the report
SCN5A
the gene. It carries the instructions for the sodium channel that starts the electrical signal for each heartbeat.
c.311G>A
the change, written in the letters of the gene. At position 311, a G became an A.
p.Arg104Gln
the same change, written in the protein. At position 104, arginine became glutamine.
R104Q
the short form of the line above. R is arginine, Q is glutamine.
Conflicting
a label in the public database that reads as laboratories disagreeing. In this case it rested on a single outdated 2018 submission, whereas published functional evidence and 3-star expert consensus classify it concordantly, which is argued in paper 5.
The two things worth knowing tonight
Most people who carry a variant like this never develop symptoms.
And fever is a recognised trigger for this condition, which is worth mentioning to any doctor treating you for an illness. What to do about either fact is a conversation with your own doctor. This site cannot have that conversation with you.
What this site will not do
It will not estimate your risk, suggest a treatment, or tell you what to do next. Not even carefully. Risk assessment needs the rest of your genome, your history, your family history and an examination, and a website has none of those. What it can do is set out exactly what has been measured, by whom, and where the measurement stops.