P347: Predicting the significance of variants in Parkinson's disease

OverinterpretationPatient 21 had hyperthyroidism and received a positive result showing a variant in TSHR.The variant had been demonstrated to be loss-of-function and led to hypothyroidism, not consistent with her presentations.Therefore, this variant was unlikely to be responsible for her hyperthyroidism. Conclusion:The nine categories of pitfalls raise warnings in the interpretation of genetic testing reports and offer insights for further investigation of genetic data in unsolved cases.