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The strategies of classifying  APP ,  PSEN1 , and  PSEN2  variants varied substantially in the previous studies. We aimed to re-evaluate these variants systematically according to the American college of medical genetics and genomics and the association for molecular pathology (ACMG-AMP) guidelines. In our study,  APP ,  PSEN1 , and  PSEN2  variants were collected by searching Alzforum and PubMed database with keywords “PSEN1,” “PSEN2,” and “APP.” These variants were re-evaluated based on the ACMG-AMP guidelines. We compared the number of pathogenic/likely pathogenic variants of  APP ,  PSEN1 , and  PSEN2 . In total, 66  APP  variants, 323  PSEN1  variants, and 63  PSEN2  variants were re-evaluated in our study. 94.91% of previously reported pathogenic variants were re-classified as pathogenic/likely pathogenic variants, while 5.09% of them were variants of uncertain significance (VUS).  PSEN1  carried the most prevalent pathogenic/likely pathogenic variants, followed by  APP  and  PSEN2 . Significant statistically difference was identified among these three genes when comparing the number of pathogenic/likely pathogenic variants ( P  < 2.2 × 10 –16 ). Most of the previously reported pathogenic variants were re-classified as pathogenic/likely pathogenic variants while the others were re-evaluated as VUS, highlighting the importance of interpreting  APP ,  PSEN1 , and  PSEN2  variants with caution according to ACMG-AMP guidelines.

APP, PSEN1, and PSEN2 Variants in Alzheimer’s Disease: Systematic Re-evaluation According to ACMG Guidelines