Table 2.

Details of patients with VUSs that strongly clinically correlate with phenotype.

Case No.	Gene	Nucleotide	Protein	Consequence	Zygosity	ACMG classification	Age of onset	Classification of Epilepsy	Clinical Features (if provided)	Other Features	Family History	Consanguinity	Change to medical treatment made	Variant Reclassification (with Clinical information)	ACMG reclassification Criteria
22	KCTD7	Exon 3, c.335G > A	(p.Arg112His)	Missense	Homozygous	VUS	2 years	Combined focal and generalized	Generalized and focal seizures clinically	Speech delay, regression in milestones, microcephaly, short stature, elfin facies, slanting eyes, failure to thrive	Yes (2nd cousin)	Yes	Yes	Likely Pathogenic	PS1, PP3, PP4, PP5
23	SCN1A	Exon 26, c.5243C > G	(p.Pro1748Arg)	Missense	Heterozygous	VUS	6 months	Generalized	GTC originally with fever, now without	None	No	Yes	Yes	Likely Pathogenic	PS1, PM1, PM2, PP3, PP4
24	CLN6	Exon 3, c.248A > G	(p.Asp83Gly)	Missense	Heterozygous	VUS	4 years	Generalized	GTC	Regression of milestones, falls, ataxia	N/A	Yes	N/A	Likely Pathogenic	PM2, PP1, PP2, PP3, PP4

Abbreviations: GTC: generalized tonic clonic; N/A: not available; VUS: variant of uncertain significance.