Table 2.

Analysis of the PRRT2 gene variants in seven cases as follows.

Sequence	1	2	3	4	5	6	7
PRRT2 mutation	c.397delG (p.E133Nfs*43)	c.46G > T (p.Glu16*)	c.649dup(p.R217Pfs*8)	c.649dup(p.R217Pfs*8)	c.649dup(p.R217Pfs*8)	c.649dup(p.R217Pfs*8)	c.649dup(p.R217Pfs*8)
ACMG Rating	PVS1 + PS2 + PM2	PVS1 + PS2 + PM2	PVS1 + PS2 + PS4 + PP1_Strong	PVS1 + PS2 + PS4 + PP1_Strong	PVS1 + PS4 + PP1_Strong	PVS1 + PS4 + PP1_Strong	PVS1 + PS4 + PP1_Strong
Pathogenicity analysis	Pathogenic	Pathogenic	Pathogenic	Pathogenic	Pathogenic	Pathogenic	Pathogenic
Type of variation	Shift code de novo variant, wild type parents	Nonsense variant, source father heterozygous	Shift code de novo variant, wild type parents	Shift code de novo variant, wild type parents	Shift code variation, source father heterozygosity	Shift code variation, source father heterozygosity	Shift code variation, source father heterozygosity
Source, Phenotype	Parents without phenotype	Father has phenotype	Parents without phenotype	Parents without phenotype	Parents without phenotype	Father has phenotype	Father has phenotype

ACMG, American College of Medical Genetics and Genomics; PVS1, very strong evidence of pathogenicity; PS1, strong evidence 1 of pathogenicity; PS2, strong evidence 2 of pathogenicity; PM1, moderate evidence 1 of pathogenicity; PM2, moderate evidence 2 of pathogenicity; PP3, supporting evidence 3 of pathogenicity; and PP5, supporting evidence 5 of pathogenicity.