Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000598690 | SCV000709947 | likely pathogenic | not provided | 2020-05-11 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 80 amino acids are replaced with 15 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23771925) |
| Clinical Genomics, |
RCV002287429 | SCV002577747 | uncertain risk allele | Maturity onset diabetes mellitus in young | criteria provided, single submitter | research | Potent mutations in GCK gene is associated with poor secretion of insulin. It is associated with milder forms of diabetes, which can be controlled by diet. However, there is no sufficient evidence to ascertain the significance of rs1400535021 in MODY, yet. | |
| Baylor Genetics | RCV003147515 | SCV003835246 | likely pathogenic | Permanent neonatal diabetes mellitus 1 | 2022-07-06 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003147513 | SCV003835271 | likely pathogenic | Hyperinsulinism due to glucokinase deficiency | 2022-07-06 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003147514 | SCV003835288 | likely pathogenic | Maturity-onset diabetes of the young type 2 | 2022-07-06 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003147512 | SCV003835339 | likely pathogenic | Type 2 diabetes mellitus | 2022-07-06 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000598690 | SCV004295137 | pathogenic | not provided | 2023-11-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu386Trpfs*16) in the GCK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GCK are known to be pathogenic (PMID: 7553875, 9867845, 14578306, 24323243, 25015100). This variant is present in population databases (no rsID available, gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of maturity onset diabetes of the young (PMID: 23771925, 32533152). ClinVar contains an entry for this variant (Variation ID: 503699). For these reasons, this variant has been classified as Pathogenic. |