Test Result Details, Etc.

Sequence variant in the SCN4A gene at transition A > G, nucleotide position IVS19+10.

From the report: "Since this type of sequence variant is similar to those observed in disease-associated mutations and benign polymorphisms, the nature of the variation prohibits definitive interpretation."

Forty other variants in the SCN4A gene have been linked to a variety of muscular disorders. Also, disease-associated mutations of the gene have a high penetrance, which means that carriers of the mutations have a high likelihood of developing the associated diseases.

But again, the report basically says that there isn't enough known about the variant I have to determine whether it is associated with disease or not.

Soooo . . . 40 other variants in this gene are known to cause muscle disease, I'm sitting here with the same darn symptoms, and the lab can't say, "Yes, this is a problem"?

However, the lab does say that "careful reconciliation of this molecular data with this individual's clinical and family history is highly recommended. Athena strongly recommends genetic counseling for this individual and his or her family members, and consideration of testing for family members."

SCN4A gene variants can be both inherited and sporadic. Inherited forms are autosomal dominant, which means a child who has just one parent with the defective gene has a 50% chance of having it as well. My symptoms go back many years; I may have had mild symptoms even before I had my son.

For more information about the gene itself and the kinds of problems its mutations can cause, check out the SCN4A page at the National Institutes of Health US National Library of Medicine.