Research Article
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study
Table 3
Results of the in silico analysis, along with evidence of pathogenicity.
| Patient’s number | Gene | Variant | SIFT | PolyPhen-2 HDIV | MutationTaster | FATHMM | PROVEAN | CADD_phred | 1000 Genomes (allele frequency) | Pathogenicity (ACMG guidelines) [21] | ClinVar |
| 1 | TREM2 | c.482+2T>C | | | | | | | No data | 5 | Likely pathogenic | 2 | TREM2 | c.482+2T>C | | | | | | | No data | 5 | Likely pathogenic | 3 | CHMP2B | c.C613T | | | | | | | No data | 4 | No data | 4 | CSF1R | c.G2239A | T | B | N | D | N | 8.944 | 0.001 | 2 | Likely benign | 5 | APP | c.G2137A | | | | | | | No data | 5 | Likely pathogenic | 6 | SERPINI1 | c.G289A | T | B | N | D | N | 0.024 | 0.002 | 1 | Benign/likely benign | 7 | GRN | c.C110G | T | D | N | T | N | 20.4 | No data | 4 | No data | 8 | APP | c.G1604A | T | D | D | T | N | 28.5 | No data | 4 | No data |
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Legend: A=harmful note; B=benign; D=deleterious; N=neutral; T=tolerated; ACMG=American College of Medical Genetics; 1=benign; 2=likely benign; 3=uncertain significance; 4=likely pathogenic; 5=pathogenic.
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