Table 2.
Genetic analysis of 5 patients with glycogen storage diseases VI in our study
| Case | cDNA change | Amino acid change | Variant type | ACMG classification |
|---|---|---|---|---|
| 1 |
c.1768 + 1G > A c.1820G > T |
NA p.(Gly607Val) |
Splicing Missense |
P LP |
| 2 |
c.198delG c.1727G > A |
p.(Arg67AlafsTer34) p.(Arg576Gln) |
Frameshift Missense |
P LP |
| 3 |
c.1334T > C c.2084G > A |
p.(Leu445Pro) p.(Gly695Glu) |
Missense Missense |
LP LP |
| 4 |
c.280 C > T c.2483T > G |
p.(Arg94Ter) p.(Val828Gly) |
Nonsense Missense |
P LP |
| 5 |
c.2446 C > T c.472T > C |
p.(Arg816Ter) p.(Tyr158His) |
Nonsense Missense |
P LP |
ACMG: American College of Medical Genetics and Genomics; P: pathogenic; LP: likely pathogenic; VUS: variant of uncertain significance; NA: not available
In bold indicate a novel variants