NM_000642.2(AGL):c.1735+1G>T AND Glycogen storage disease IIIa

Significance: Pathogenic
ClinVar: RCV000001159

Variant: NM_000642.2(AGL):c.1735+1G>T

Type: Variant
Allele: NM_000642.2(AGL):c.1735+1G>T 16139
Type: single nucleotide variant
Location: Chr1: 100345603 - assembly GRCh37
Chr1: 99880047 - assembly GRCh38
References: dbSNP: 199922945
OMIM: 610860.0007


Disease: Glycogen storage disease IIIa


    In a Japanese man with glycogen storage disease type IIIa (GSD3A; 232400), Okubo et al. (1996) reported heterozygosity for a 124-bp deletion in the AGL gene, corresponding to a single exon. The deletion resulted from a G-to-T transversion at the donor splice site immediately downstream of the deletion. The mutation was predicted to result in a truncated enzyme. This was the first mutation in the AGL gene identified in a patient with GSD III. The patient was a 43-year-old Japanese man who had been diagnosed with GSD III at 18 years of age. He had hepatomegaly and muscle weakness. Family history showed no consanguinity. The patient's asymptomatic father and son were also heterozygous for the mutation. Southern blot analysis of the patient's genomic DNA showed an additional, unique EcoRI fragment of 5.8 kb, inherited from the mother (610860.0008).