Table 5.

Variants identified by the NGS panel in this study. Misannotated or probably non-pathogenic variants

Patient N°	Age onset (years) / sex	Gene	Nucleotide change	Protein change	Trait	Concordant phenotype	ExAC frequency	SIFT score	Polyphen 2	Variant reported	Notes	References
2	NN / F	PC	c.715A > G /?	p.Ile239Val	AR	No	< 0.01%	0.28	0.04	No		–
22	1–16 / M	OPA3	c.229G > A /?	p.Ala77Thr	AD / AR	No	0	0.12	1.0	No	Mother: htz	–
23	1–16 / M	MFN2	c.1987C > T	p.Arg663Cys	AD	No	< 0.01%	0.0	1.0	Yes		Di Meglio et al., 2016 [19]
52	> 16 / M	MFN2	c.1085C > T	p.Thr362Met	AD	No	< 0.01%	0.0	1.0	Yes		Chung et al., 2006 [42]
59	> 16 / M	MLYCD	c.206C > T /?	p.Ala69Val	AR	No	< 0.01%	0.07	0.685	Yes		Wightman et al., 2003 [24]
69	> 16 / F	DGUOK	c.750G > T /?	p.Leu250Phe	AR	No	0	0.0	1.0	No		–

Mutation Taster predicted all variants to be disease causing; NN neonatal, AR autosomal recessive, AD autosomal dominant, htz heterozygous, NA not available, Csg consanguinity