ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.207A>G (p.Ser69=)

dbSNP: rs779548342
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001249064 SCV001423011 uncertain significance Maturity-onset diabetes of the young type 2 2020-01-22 criteria provided, single submitter curation The c.207A>G (p.Ser69=) variant in GCK has not been previously reported in individuals with maturity-onset diabetes of the young but has been identified in 0.003% (1/30616) South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs779548342). Please note that for diseases with clinical variability, or reduced penetrance, pathogenic variants may be present at a low frequency in the general population. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3 (Richards 2015).
Athena Diagnostics RCV001289435 SCV001477252 uncertain significance not provided 2019-10-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819955 SCV002067277 uncertain significance not specified 2019-03-29 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002465855 SCV002605378 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 rs779548342 in MODY, yet.
Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital RCV002465855 SCV004037044 likely pathogenic Maturity onset diabetes mellitus in young 2022-11-01 criteria provided, single submitter clinical testing minigene showed effect on RNA splicing: retention of the first 10 bp of intron 2 (r.207_209delinsCGGTACCACATG, p.Glu70Glyfs*4). PS3 PM2 PP4

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