Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000518517 | SCV000613452 | pathogenic | not provided | 2017-04-28 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002463704 | SCV002605135 | 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. Its associated with milder forms of diabetes, which can be controlled by diet . However, there is no sufficient evidence to ascertain the significance of rs1554335164 in MODY, yet. | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003987576 | SCV004804346 | pathogenic | Maturity-onset diabetes of the young type 2 | 2024-01-10 | criteria provided, single submitter | clinical testing | Variant summary: GCK c.686delG (p.Gly229AlafsX65) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 250196 control chromosomes (gnomAD). c.686delG has been reported in the literature in at least one individual affected with Maturity Onset Diabetes Of The Young 2 (e.g., Aykut_2018). These data suggest the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication was ascertained in the context of this evaluation (PMID: 29056535). ClinVar contains an entry for this variant (Variation ID: 447414). Based on the evidence outlined above, the variant was classified as pathogenic. |