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

Table 2 Pathogenic variants identified in this study

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

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

ISSN: 1824-7288