Table 1.

Summary of candidate variants identified and in silico prediction scores in the patient

Gene	Protein ID	DNA change	AA change	gnomAD	TOPMED	GERP	CADD	REVEL
CACNA1I	Q9P0X4	82C>T	P28S	n.d	8.00E−06	1.27	14.69	0.350
		1747G>A	A583T	2.42E−03	3.76E−03	−0.55	0.67	0.244
NIN	Q8N4C6	5264C>T	A1755V	2.10E−05	1.10E−05	4.50	19.36	0.078
		6348A>G	I2116M	2.10E−05	1.10E−05	1.79	13.81	0.218
KCNH5	Q8NCM2	2566A>C	N856H	n.d	n.d	5.92	21.50	0.531

gnomAD and TOPMED databases gather previously reported variation frequencies. GERP tool display a conservation score for a nucleotide position, values above 3 are considered as highly conserved. CADD tool scores the predicted deleteriousness of a variant (SNP or indels), values above 20 can be considered as “likely deleterious”. REVEL method combines 13 individual tools to predict the pathogenicity of missense variants, with scores from 0 to 1, it is estimated “likely disease causing” when above 0.5