ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.766G>A (p.Glu256Lys) (rs769268803)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255753 SCV000321715 pathogenic not provided 2015-08-06 criteria provided, single submitter clinical testing The E256K missense mutation in the GCK gene has been reported previously in association with MODY2 (Yellapu et al., 2013, Gidh-Jain et al., 1993). Variants in the GCK gene are associated with MODY2, which accounts for approximately 20-50% of MODY cases. Patients with MODY2 typically have mild to moderate fasting hyperglycemia and are often asymptomatic. The majority of patients are managed with diet alone and rarely need pharmacological intervention (Gardner and Tai, 2012; Steck and Winter, 2011). Homozygous or compound heterozygous GCK mutations are associated with a more severe form of diabetes mellitus known as permanent neonatal diabetes mellitus (PNDM) (Osbak et al., 2009).
Athena Diagnostics Inc RCV000255753 SCV000613455 pathogenic not provided 2017-02-07 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763583 SCV000894422 pathogenic Permanent neonatal diabetes mellitus; Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young, type 2 2018-10-31 criteria provided, single submitter clinical testing

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