Table 2.
List of GCK (NM_000162.3) variants identified.
| Nucleotide | Protein | Pheno | dbSNP | Times seen | Interp. | LOVD | ClinVar | Reference |
|---|---|---|---|---|---|---|---|---|
| c.106C>T | p.R36W | MODY | – | 1 | PATH | PATH | – | [18] |
| c.130G>A | p.G44S | MODY | – | 1 | PATH | VUS | – | [23] |
| c.194C>T | p.T65I | NDM | – | 1 | PATH | – | – | [47] |
| c.203G>A/c.892A>G | p.G68D/p.M298V | MODY | rs373418736/− | 1/1 | VUS/PATH | −/− | −/− | [23]/[21] |
| c.241G>A | p.G81S | MODY | – | 1 | PATH | – | – | [23] |
| c.349G>C | p.G117R | MODY | – | 1 | VUS | – | – | This report |
| c.391T>C | p.S131P | MODY | rs104894010 | 1 | PATH | – | PATH | [48] |
| c.397T>C | p.F133L | MODY | – | 1 | LP | – | – | This report |
| c.431T>C/c.460G>C | p.L144P/p.V154L | MODY | −/− | 1/1 | VUS/PATH | −/− | −/− | This report/this report |
| c.533G>A | p.G178E | MODY | – | 1 | PATH | – | – | [49] |
| c.544G>A | p.V182M | MODY | – | 1 | PATH | PATH | – | [50] |
| c.556C>T | p.R186* | “Diabetes”* | rs104894006 | 1 | PATH | PATH | PATH | [51] |
| c.572G>A | p.R191Q | MODY | – | 1 | PATH | VUS | – | [52] |
| c.601G>C | p.A201P | MODY | 1 | LP | – | – | This report | |
| c.601G>T | p.A201S | MODY | – | 1 | PATH | – | – | [23] |
| c.608T>C | p.V203A | MODY | – | 2 | PATH | – | – | [50] |
| c.616A>C | p.T206P | MODY | – | 1 | PATH | – | – | [53] |
| c.626C>T | p.T209M | MODY | – | 1 | PATH | – | – | [18] |
| c.629T>C | p.M210T | MODY | rs80356654 | 1 | PATH | PATH | PATH | [54] |
| c.661G>A | p.E221K | MODY | rs193922317 | 1 | PATH | – | LP | [55] |
| c.667G>A | p.G223S | n.p. | – | 3 | PATH | – | – | [52] |
| c.676G>A | p.V226M | MODY | rs148311934 | 10 | PATH | PATH | PATH | [54] |
| c.683C>T | p.T228M | MODY | rs80356655 | 2 | PATH | – | PATH | [19] |
| c.766G>A | p.E256K | MODY | – | 1 | PATH | PATH | LP | [56] |
| c.781G>A | p.G261R | MODY | rs104894008 | 3 | PATH | – | PATH | [19] |
| c.787T>C | p.S263P | MODY | rs193922331 | 3 | PATH | – | LP | [57] |
| c.802G>A | p.E268K | MODY | 1 | PATH | – | – | [23] | |
| c.871A>T | p.K291* | n.p. | rs193922335 | 1 | PATH | – | PATH | ClinVar only |
| c.883G>T | p.G295C | MODY | – | 1 | LP | – | – | This report |
| c.891C>A | p.Y297* | n.p. | – | 1 | PATH | – | – | [58] |
| c.917T>C | p.L306P | MODY | rs193922337 | 1 | LP | – | LP | [23] |
| c.951delC | p.H317Qfs*36 | MODY | – | 1 | PATH | – | – | This report |
| c.971T>C | p.L324P | MODY | rs193922341 | 1 | PATH | PATH | LP | [59] |
| c.1007C>A | p.S336* | Diabetes | – | 1 | PATH | – | – | [23] |
| c.1113C>A | p.C371* | n.p. | – | 1 | PATH | – | – | This report |
| c.1142T>G | p.M381R | n.p. | rs193922266 | 1 | PATH | – | LP | [24] |
| c.1268T>C | p.F423S | “Fasting hyperglycemia”* | – | 1 | LP | – | – | This report |
| c.1364T>A | p.V455E | MODY | – | 1 | PATH | PATH | – | [60] |
Variants identified in GCK are shown, along with phenotype, dbSNP number, clinical interpretation, and presence in two databases (LOVD and ClinVar). “n.p.” indicates no phenotypic information provided. In two individuals (indicated by *) the clinical information provided was insufficient to determine the diagnosis, but the available clinical information is shown. All identified variants are in the heterozygous state, and in two individuals compound heterozygosity was identified and is indicated.