ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.836A>G (p.Glu279Gly)

gnomAD frequency: 0.00004  dbSNP: rs143484733
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987867 SCV001137351 uncertain significance Maturity-onset diabetes of the young type 2 2019-05-28 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000987867 SCV001422833 uncertain significance Maturity-onset diabetes of the young type 2 2020-01-22 criteria provided, single submitter curation The p.Glu279Gly variant in GCK has not been previously reported in individuals with maturity-onset diabetes of the young but has been identified in 0.0113% (4/35329) of Latino chromosomes and 0.0198% (7/35332) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs143484733). This variant has been seen in the general population at a frequency high enough to rule out a pathogenic role. 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 the clinical significance of the p.Glu279Gly variant is uncertain, these data suggest that it is more likely to be benign. ACMG/AMP Criteria applied: BA1, PP3 (Richards 2015).
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463757 SCV002605040 likely 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 rs143484733 in MODY, yet.
Fulgent Genetics, Fulgent Genetics RCV002488077 SCV002790576 uncertain significance Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 2022-05-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549691 SCV003265920 uncertain significance not provided 2022-11-30 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GCK protein function. ClinVar contains an entry for this variant (Variation ID: 802308). This variant has not been reported in the literature in individuals affected with GCK-related conditions. This variant is present in population databases (rs143484733, gnomAD 0.03%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 279 of the GCK protein (p.Glu279Gly).

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