Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029900 | SCV000052555 | likely pathogenic | Maturity-onset diabetes of the young type 2 | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Likely pathogenic. |
Gene |
RCV000482920 | SCV000568574 | likely pathogenic | not provided | 2023-11-13 | criteria provided, single submitter | clinical testing | In-frame deletion of 1 amino acid in a non-repeat region predicted to critically alter the protein; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Identified in patients with MODY in published literature and referred for genetic testing at GeneDx in association with MODY (PMID: 29927023, 24804978); This variant is associated with the following publications: (PMID: 19790256, 27167055, 24804978, 29927023) |
Clinical Genomics, |
RCV002287347 | SCV002577624 | uncertain significance | 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 well. However, there is no sufficient evidence to assertain the significance of rs193922314 in MODY, yet. This variant is shown to be potentially damaging by insilico analysis. | |
Genetic Services Laboratory, |
RCV000482920 | SCV003839555 | likely pathogenic | not provided | 2022-08-31 | no assertion criteria provided | clinical testing | DNA sequence analysis of the GCK gene demonstrated a three base pair deletion in exon 6, c.635_637del. This in-frame deletion is predicted to result in the deletion of an amino acid residue, p.Ser212del. This deletion has been previously described in individuals with GCK -related MODY and neonatal hyperglycemia (PMIDs: 24804978, 29927023, 27167055 and 34374989). This sequence change has been described in the gnomAD database with a global population frequency of 0.0004% (dbSNP rs193922314). These collective evidences indicate that this sequence change is likely pathogenic, however functional studies have not been performed to prove this conclusively. |