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Table 2 Pathogenic variants identified in this study

From: Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project

ID Sex Gene Genomic position
(hg19)
cDNA
Change
Protein
Change
Effect Status GERP Mutation Taster SIFT CADD Inferred effect
(ACMG)
2 F MECP2 X:153296096 NM_004992.3
c.1157_1186delinsA
p.(Leu386Hisfs*9) Frameshift HET 5.49 Disease causing Likely pathogenic
12 F MECP2 X:153296882 NM_004992.3
c.397C > T
p.(Arg133Cys) Missense HET 5.24 Disease causing Damaging 34 Pathogenic
13 F MECP2 X:153296777 NM_004992.3
c.502C > T
p.(Arg168*) Stop gained HET 5.48 Disease causing Damaging 38 Pathogenic
21 F TPP1 11:6638385 NM_000391.3
c.509-1G > C
Altered acceptor site
(HSF)
HOM 4.43 Disease causing 31 Pathogenic
  1. ACMG American College of Medical Genetics and Genomics, CADD Combined Annotation Dependent Depletion, F female, GERP Genomic Evolutionary Rate Profiling, HET heterozygous, HOM homozygous, HSF Human Splice Finder, SIFT Sorting Intolerant From Tolerant, XL X-linked