Table 5.

Glycogen Storage Disease Type I: Notable Pathogenic Variants by Gene

GeneReference SequencesDNA Nucleotide Change
(Alias 1)		Predicted Protein ChangeComment [Reference]
G6PC1 NM_000151​.3
NP_000142​.1 		c.79delC
(158delC)		p.Gln27ArgfsTer91 of 3 variants that account for 21% of pathogenic variants in European population [Seydewitz & Matern 2000, Chou et al 2002]
c.247C>Tp.Arg83CysAccounts for 32% of pathogenic variants in European population & 93%-100% in Jewish population [Stroppiano et al 1999, Janecke et al 2001, Ekstein et al 2004]
c.248G>Ap.Arg83HisAccounts for 38% of pathogenic variants in Chinese population
c.562G>C
(641G>C)		p.Gly188Arg1 of 3 variants that account for 21% of pathogenic variants in European population [Seydewitz & Matern 2000, Chou et al 2002]
c.648G>T
(G727T)		p.Tyr202Ter 2Accounts for 88% of pathogenic variants in Japanese population & 36% of pathogenic variants in Chinese population [Kajihara et al 1995, Lam et al 1998]
c.1039C>T
(1118C>T)		p.Gln347Ter1 of 3 variants that account for 21% of pathogenic variants in European population; founder variant in Amish population [Seydewitz & Matern 2000, Chou et al 2002]
c.379_380dupTA
(459insTA)		p.Tyr128ThrfsTer3Accounts for 50% of pathogenic variants in Hispanic population [Rake et al 1999, Matern et al 2002]
SLC37A4 NM_001467​.5
NP_001458​.1 		c.352T>C
(521T>C)		p.Trp118ArgAccounts for 50% of variants in Japanese population [Kure et al 1998, Nakamura et al 1999, Matern et al 2002, Kojima et al 2004].
c.1015G>T
(1184G>T)		p.Gly339CysAccounts for 15% of pathogenic variants in European population & for 29% of pathogenic variants in German population [Veiga-da-Cunha et al 1999, Santer et al 2000, Chou et al 2002]
c.1042_1043delCT
(1211delCT)		p.Leu348ValfsTer53Accounts for 31% of pathogenic variants in European population & for 32% of pathogenic variants in German population [Veiga-da-Cunha et al 1999, Santer et al 2000, Chou et al 2002]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Variant designation that does not conform to current naming conventions

2.

Silent amino acid change (Leu216Leu) that creates a new splice site resulting in premature termination at p.Tyr202Ter [Lam et al 1998]

From: Glycogen Storage Disease Type I

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