A1298C

My daughter recently tested positive for one copy of the A1298C mutation.  She has also been diagnosed PDD NOS.  Should we consult with a genetics counselor or specialist?  My daughter is adopted and her birth parents both have mental health conditions as well as a variety of other health issues.

[Jordanna Joaquina, MS, CGC]

A consultation with a medical geneticist may be helpful regarding the history of mental health conditions and PDD NOS. Mental health issues are multifactorial conditions which involve both genetic and non-genetic factors. Some types of mental health conditions are more likely to have a stronger hereditary component than others. A medical geneticist can be found at the American College of Medical Genetics website.

A medical geneticist can also explain MTHFR and the A1298C variant. In general, if isolated, having one copy of the A1289C variant is not thought to be clinically significant. However, a medical geneticist can review your daughter's personal history, known family history, and any other test results to provide a more accurate risk assessment.