Table 1. Pathogenicity assessment of CERT1 variants identified in the present and previous studies.

References	Variants	Isoform 3 = > 1	Inheritance	Frequency in control cohort	CADD	SIFT	PolyPhen2	Criteria in ACMG 2015
Takata et al. 2018	c.561T>G:p.(Asp187Glu)	p.(Asp59Glu)	de novo	Nothing	12.31	Tolerated	0.03 Benign	Likely pathogenic PS2, PM2
Kosmicki et al. 2017	c.776G>A:p.(Gly259Asp)	p.(Gly131Asp)	de novo	Nothing	28.5	Damaging	1.00 Probably damaging	Likely pathogenic PS2, PM2, PP3
Fitzgerald et al. 2015	c.779C>T:p.(Ser260Leu)	p.(Ser132Leu)	de novo	Nothing	32.0	Damaging	0.998 Probably damaging	Likely pathogenic PS2, PM1, PM2, PP3
This study	c.787T>C:p.(Ser263Pro)	p.(Ser135Pro)	de novo	Nothing	28.0	Damaging	0.999 Probably damaging	Pathogenic PS2, PM1, PM2, PM5, PP3
Lelieveld et al. 2017	c.788C>G:p.(Ser263Cys)	p.(Ser135Cys)	de novo	Nothing	28.2	Damaging	0.999 Probably damaging	Likely pathogenic PS2, PM1, PM2, PP3
de Ligt et al. 2012	c.797C>G:p.(Ser266Cys)	p.(Ser138Cys)	de novo	Nothing	28.3	Damaging	1.000 Probably damaging	Likely pathogenic PS2, PM1, PM2, PP3
Wang et al. 2016	c.880A>G:p.(Thr294Ala)	p.(Thr166Ala)	de novo	Nothing	22.8	Damaging	0.287 Benign	Likely pathogenic PS2, PM2
Wang et al. 2016	c.928T>C:p.(Phe310Leu)	p.(Phe182Leu)	de novo	Nothing	23.4	Damaging	0.01 Benign	Likely pathogenic PS2, PM2
Hamdan et al. 2014	c.1111G>A:p.(Gly371Arg)	p.(Gly243Arg)	de novo	Nothing	32.0	Damaging	1.000 Probably damaging	Likely pathogenic PS2, PM2, PP3

CADD; Combined Annotation Dependent Depletion, SIFT; Sorting intolerance from tolerance, PolyPhen-2; Polymorphism phenotyping version 2; ACMG; American college of medical genetics and genomics; PS, strong pathogenicity; PM, moderate pathogenicity; PP, supporting pathogenic