Misclassification of TGM6 variants may result in misdiagnosis of spinocerebellar ataxia type 35

Takeaway

  • Over-representation of TGM6 variants makes it difficult to distinguish benign or low penetrant variants from truly pathogenic variants, leading to inaccurate diagnosis of spinocerebellar ataxia type 35 (SCA35).

Why this matters

  • Proper classification of TGM6 variants is necessary to identify the true pathogenic variants in order to confirm the gene–disease association and avoid misdiagnosis of SCA35.