DWQA QuestionsCategory: QuestionsRare pathogenic variant found during whole genome sequencing
Beth Annis asked 3 years ago
I had whole genome 30x performed in an effort to try and understand my sudden health decline as an adult. I ran my SNPs through Promethease and the top thing that came back was a very uncommon pathogenic heterozygous variant related to ACAD9. Specifically, my variant is rs115532916(A;G)  I am unsure what to do with this information as online resources are scant. While Promethease claimed it is likely benign, I am still nervous due to other  information regarding people with ACAD9 deficiency who seemed healthy but then had sudden deaths in childhood (I have 2 young daughters). Can you please direct me to where I can find more information? I am feeling lost. Thank you,
Beth Annis

1 Answers
INFORM Physician answered 3 years ago

Ms. Annis, it is not possible to comment directly on this type of data as they are not generated in a clinical lab. Regardless, ACAD9 deficiency is a recessive disease and 2 mutations, one on each gene copy, are necessary to cause disease. You might consider a genetic evaluation if you are worried about such a condition. i hope this helps. Dr. Vockely