ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.106C>T (p.Arg36Trp) (rs762263694)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497478 SCV000589597 likely pathogenic not provided 2021-04-14 criteria provided, single submitter clinical testing Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29056535, 33477506, 22389783, 30155490, 25555642, 16965331, 22540858, 21521320, 8168652, 21348868, 28012402, 24430320, 12955723, 27935851, 23433541, 14517946, 24097065, 10426385)
Genetic Services Laboratory, University of Chicago RCV000503648 SCV000594957 pathogenic Maturity-onset diabetes of the young, type 2 2017-02-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000497478 SCV000613394 pathogenic not provided 2017-02-02 criteria provided, single submitter clinical testing
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV000788107 SCV000925754 pathogenic Maturity onset diabetes mellitus in young 2018-07-20 criteria provided, single submitter clinical testing The c.106C>T variant (rs762263694) is located in exon 2 of the GCK gene. The C to T transition results in the substitution of arginine for tryptophan at amino acid position 36 of the glucokinase protein. This same variant, as well as a different missense change involving the same amino acid residue (p.Arg36Gln), has been reported in the heterozygous state in several individuals with MODY (PMIDs: 8168652, 25555642, 24097065, 22540858 and others). This is a rare variant in the general population (GnomAD), and the substitution occurs at a position that is highly conserved across species.

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