Table 1.

Information of the five individuals with “hot VUS” variants after reevaluation.

Variant ID	Individual ID	Gene	Variant	Variant classification	Classification rules	Zygosity	Origin
SNV_002	Ind002	TUBB2B	c.611 A > T, p.(Asn204Ile)	VUS	PM2_Supporting, PP2_Supporting, PP3_Supporting, PP4_Supporting	Heterozygous	Maternal
SNV_022	Ind019	NPRL3	c.434 T > C, p.(Leu145Pro)	VUS	PS2_Moderate, PM2_Supporting, PP3_Supporting	Heterozygous	de novo (confirmed)
SNV_027	Ind025	DYNC1H1	c.8945 G > A, p.(Arg2982His)	VUS	PS2_Moderate, PM2_Supporting, PP2_Supporting, PP3_Supporting	Heterozygous	de novo (confirmed)
SNV_067	Ind069	SCN1A	c.4581 + 18 A > G, p.?	VUS	PS2_Moderate, PM2_Supporting, PP3_Supporting	Heterozygous	de novo (confirmed)
SNV_073	Ind077	NBEA	c.4662 + 1 G > C, p.Thr1519_Val1554del	VUS	PVS1_Moderate, PS2_Moderate, PM2_Supporting	Heterozygous	de novo (confirmed)