Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000479670 | SCV000573110 | pathogenic | not provided | 2017-02-09 | criteria provided, single submitter | clinical testing | The c.431delT pathogenic variant in the GCK gene causes a frameshift starting with codon Leucine 144, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Leu144ArgfsX11. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.431delT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server) |
Clinical Genomics, |
RCV002464015 | SCV002605285 | likely pathogenic | Maturity onset diabetes mellitus in young | criteria provided, single submitter | research | Potent mutations in GCK gene is associated with poor secretion of insulin. Its associated with milder forms of diabetes, which can be controlled by diet . However, there is no sufficient evidence to ascertain the significance of rs1064796410 in MODY, yet. |