MS-1557

A 10-year-old boy comes to the genetics clinic with a history of poor coordination and speech difficulties that have been getting worse over the past year, indicating a possible inherited ataxia disorder.

Despite testing for known ataxia genes, no mutations are found. As a result, a whole exome sequence is conducted to search for less common mutations, which reveals a silent mutation in a codon on chromosome 11.

How would you best describe this mutation?