Table 1.

Characteristics of 12 novel TSC gene variants which have not been reported.

Patients no.	Location	Nucleotide alteration	Amino acid alteration	Type of variant	De novo/hereditary	NM-No	Supporting evidence a	Pathogenicity b
T15	TSC2 (Exon 10)	c.853T>C	p.Y285H	Missense	Hereditary	NM_000548.3	PS1, PM2, PP1, PP3	II
T19	TSC1 (Exon 9)	c.892_893insC	p.A298AfsX2	Frameshift	Hereditary	NM_000368.4	PVS1, PS1, PM2, PP1	I
T20	TSC2 (Exon 34)	c.4113_4114insG	p.V1371Gfs42	Frameshift	De novo	NM_000548.3	PVS1, PS2, PM2, PP1	I
T23	TSC2 (Exon 41)	c.5384_5385delGC	p.K1794Kfs∗	Frameshift	De novo	NM_000548.3	PVS1, PS2, PM2, PP1	I
T24	TSC2 (Exon 36)	c.4630A>T	p.K1544X,264	Nonsense	De novo	NM_000548.3	PVS1, PS2, PM2, PP1	I
T38	TSC2 (Exon 22)	c.2538delC	p.F846Ffs∗48	Frameshift	De novo	NM_000548.3	PVS1, PM2, PP1, PP4	I
T40	TSC2 (Exon 41)	c.5227_5244delCGGCTC CGCCACATCAAG	p.R1743_K1748del	In-frame Deletion	De novo	NM_000548.3	PVS1, PS2, PM2, PP1, PP4	I
T59	TSC2 (Exon 11)	c.1064_1065insG	p.(V355Vfs∗32)	Frameshift	De novo	NM_000548.3	PVS1, PS2, PM2, PP1, PP4	I
T77	TSC2 (Exon 10)	c.910_911insG	p.W304Wfs∗34	Frameshift	De novo	NM_000548.3	PVS1, PS2, PM2, PM4, PP1	I
T98	TSC2 (Exon 24)	c. 2678T>G	p.I893R	Missense	De novo	NM_000548.3	PS2, PM2, PP3, PP4	II
T101	TSC2 (Exon 6)	c.557delT	p.F186Sfs∗16	Frameshift	De novo	NM_000548.3	PVS1, PS2, PM2, PM4, PP4	I
T102	TSC1 (Exon 20)	c. 2623C>T	p.Q875X	Nonsense	Hereditary	NM_001162427	PVS1, PM2, PM4, PP4	I

Abbreviation: TSC, tuberous sclerosis complex.

^aThe classification of genetic pathogenicity is based on the following reference: Richards et al. standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med, 2015.17(5): p. 405-24.

^bClassification of pathogenicity of variants: I, pathogenic; II, likely pathogenic, III, uncertain significance, IV, likely benign, and V, benign.