Molecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand

Table 2 Comparison of novel AGL variants based on allele frequency and functional impact

Variant	GRCh37/hg19 gnomAD	GRCh38/hg38 gnomAD	5432 Thai exomes	Potential functional impact	Reported in other GSD cases	ACMG classification
c.1611+1G>C (p.?)	Not identified	Not identified	Not identified	Potentially disruptive to splicing due to its location at the splice donor site. May lead to aberrant mRNA processing and protein expression	Not reported	Likely pathogenic (PVS1, PM2)
c.1735G>A (p.Glu579Lys)	Not identified	Identified in 1 out of 1461034 alleles	Not identified	Missense mutation resulting in a Glu579Lys amino acid change within the transferase catalytic domain. May affect enzyme activity or protein stability	Not reported	Variant of uncertain significance (PM2, PP3)

ACMG: American College of Medical Genetics and Genomics; GSD: Glycogen storage diseases.