Table 2.

In silico prediction and ACMG classification of the missense variant

	c.446A>G;(p.Tyr149Cys)	c.161G>A;(p.Arg54Gln)	c.3G>T (p.Met1?).
Revel	Deleterious (moderate) (0.83)	Deleterious (supporting) (0.7)	Uncertain (0.35)
Varity	Deleterious (0.96)	Deleterious (0.9)	Deleterious (0.96)
SIFT	Deleterious (supporting) (0)	Uncertain (0.001)	Deleterious (supporting) (0)
MT	Deleterious (1)	Deleterious (1)	Deleterious (1)
CADD score	27.2	27.0	24.9
gnomAD allele frequency	0.00001416	0.00001193	0
ACMG Classification	PS3, PM2, PP3, PP4	PS3, PM2, PP3, PP4	PVS1, PM2, PP4, PP5
Interpretation	Likely Pathogenic	Likely pathogenic	Likely Pathogenic