ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.214G>C (p.Gly72Arg)

dbSNP: rs193922289
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253600 SCV001429409 pathogenic Maturity-onset diabetes of the young type 2 2019-02-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003546683 SCV004252717 pathogenic not provided 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 72 of the GCK protein (p.Gly72Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant maturity-onset diabetes of the young (PMID: 10447526, 12442280, 30259503, 30447144, 30663027, 31216263; Invitae). ClinVar contains an entry for this variant (Variation ID: 976334). 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 expected to disrupt GCK protein function with a positive predictive value of 80%. Studies have shown that this missense change alters GCK gene expression (PMID: 16731834, 17389332). For these reasons, this variant has been classified as Pathogenic.
Department of Clinical Genetics, Medical University of Lodz RCV001253600 SCV005419003 pathogenic Maturity-onset diabetes of the young type 2 2024-11-29 criteria provided, single submitter clinical testing

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