ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.667G>A (p.Gly223Ser) (rs1360415315)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502130 SCV000594959 pathogenic Maturity-onset diabetes of the young, type 2 2016-08-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517681 SCV000613448 pathogenic not provided 2020-09-29 criteria provided, single submitter clinical testing This variant has not been reported in large, multi-ethnic general populations ( This variant segregates with disease in multiple families. Assessment of experimental evidence suggests this variant results in abnormal protein function. Studies show that this variant reduces glucokinase activity (PMID 22291974, 22493702). Computational tools predict that this variant is damaging.
Fulgent Genetics,Fulgent Genetics RCV000763585 SCV000894424 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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