Table 1.

Pathogenicity assessment of PCDH19 mutations

Family	Mutation type	Position: Chr X	Exon	Domain	Amino acid changes	Consequence at the protein level	Parents' analysis	ACMG scoring	ACMG pathogenicity	Reported/Novel
1	Frameshift	100408021	1	EC2	c.577delG	p.Glu193Lysfs*19	Paternal	PVS + PM1 + PM2	P	N
2	Frameshift	99662504–99662505	1	EC4	c.1091dupC	p.Tyr366Leufs*10	Paternal	PVS + PS1 + PM1	P	Y
3	Missense	99662454	1	EC4	c.1142A > G	p.Asn381Ser	Paternal	PM1 + PM2 + PP3 + PP4	LP	N
4	Nonsense	99661792	1	EC6	c.1804C > T	p.Arg602*	De novo	PVS + PS1 + PS2 + PM1 + PM2	P	Y
5	Frameshift	99662504–99662505	1	EC4	c.1091dupC	p.Tyr366Leufs*10	De novo	PVS + PS1 + PS2 + PM1	P	Y
6	Frameshift	99551862	6	CP	c.2859_2860insT	p.Gly954Trpfs*15	De novo	PS2 + PM2	VUS	N
7	Frameshift	99663460–99663462	1	EC1	c.134_135del	p.Asp45Glyfs*43	De novo	PVS + PS1 + PS2 + PM1 + PM2	P	Y
8	In frame	99663242–99663244	1	EC1	c.352_354del	p.Glu118del	De novo	PS2 + PM1 + PM2 + PM4	P	N
9	Missense	99662806	1	EC3	c.790G > C	p.Asp264His	De novo	PS1 + PS2 + PM1 + PM2 + PP3	P	Y
10	Large deletion		1–6		Deletion of exons 1 to 6	Absence of protein synthesis	De novo		P	Y

Abbreviations: CP, cytoplasmic domain; EC, extracellular cadherin domains; LP, likely pathogenic; N, no; P, pathogenic; TM, transmembrane; Y, yes.