Table 3.

Medical genetics investigation of studied patient. Result summary

GENE	VARIANT COORDINATES	ZYGOSITY	IN SILICO PARAMETERS*	ALLELE FREQUENCIES**	TYPE AND CLASSIFICATION***
GYS2	Chr12(GRCh37): g.21727209 G>A NM_021957.3: c.547 C>T p.(Gln183*) Exon 4	Het	PolyPhen: N/A Align-GVGD:N/A SIFT: N/A Conservation: nt moderate	gnomAD: 0.000047 ESP: 0.00015 1000 G: 0.00020 CentoMD: 0.000070	Stop gain Pathogenic (Class 1)
	Chr12(GRCh37): g.21728830del NM_021957.3:c.465del p.(Phe155Leufs*4) Exon 3	Het	PolyPhen: N/A Align-GVGD: N/A SIFT: N/A Mutation Taster:N/A	gnomAD: 0.0000080 ESP: - 1000 G: - CentoMD: -	Frameshift Likely pathogenic (Class 2)

Variant description based on Alamut Batch (latest database available).

^*AlignGVD: C0: least likely to interfere with function. C65: most likely to interfere with function, splice prediction tools: SSF, MaxEnt, HSF.

^**Genome Aggregation Database (gnomAD), Exome Sequencing Project (ESP). 1000Genome project (1000 G) and CentoMD ®(latest database available).

^***based on ACMG recommendations.