Date Published: January 7, 2025

SPARK lets participants know if they have a variant (or change) in a gene that is very likely to have been a primary cause of their autism. This process is called ‘returning genetic results.’

SPARK returns variants that change how a gene or its products function in specific genes and DNA regions.

SPARK chooses which genes and DNA regions to look in by using the information and resources provided by groups of experts. These experts have determined which genes have a ‘definitive’ or ‘strong’ association with the following neurodevelopmental conditions:

• Autism
• Intellectual disability
• Epilepsy
• Other autism-like conditions including Rett syndrome and Angelman syndrome

SPARK adds these genes to a gene list. We update this list when we learn more. And we tell participants if they have a genetic variant in a newly-added gene.

The main source for this list is ClinGen, a National Institutes of Health (NIH)-funded resource that uses expert panels and committees to define the impact of genes and variants on conditions. See the ClinGen Intellectual Disability & Autism Gene Curation Expert Panel list. SPARK also uses resources from another expert database called Genes2Phenotype.

Please note that not all variants or genetic changes in the genes on this list are expected to change how a gene works. SPARK scientists use the criteria established by the American College of Medical Genetics and Genomics (ACMG) to review the variant and confirm that the variation would change the gene enough to have an effect. SPARK only returns variants that an independent clinical laboratory determines are either “likely pathogenic” or “pathogenic.” This means that scientists are at least 90% confident that this genetic variation changes how a gene works. Variants that are considered “uncertain” are not communicated to participants. Learn more about ACMG’s standards and guidelines.