ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.76C>T (p.Gln26Ter)

dbSNP: rs193922329
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029919 SCV000052574 likely pathogenic Maturity-onset diabetes of the young type 2 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
GeneDx RCV000255007 SCV000322349 pathogenic not provided 2020-11-17 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 11508276, 14981344, 25525159, 24735133)
Eurofins NTD LLC (GA) RCV000255007 SCV000343033 pathogenic not provided 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000255007 SCV002067466 pathogenic not provided 2020-04-21 criteria provided, single submitter clinical testing
Invitae RCV000255007 SCV002238461 pathogenic not provided 2021-08-24 criteria provided, single submitter clinical testing
National Newborn Screening Laboratory, Hospital Nacional de Niños RCV000029919 SCV002506584 pathogenic Maturity-onset diabetes of the young type 2 criteria provided, single submitter clinical testing This is a nonsense variant in the GCK gene, where loss of function is a known mechanism of disease (PVS1). This variant results in a truncated protein by creating a premature stop codon. It is not present in population databases (GnomAD exomes, GnomAD genomes) (PM2).
Geisinger Clinic,Geisinger Health System RCV000029919 SCV002562192 pathogenic Maturity-onset diabetes of the young type 2 2022-08-02 criteria provided, single submitter research PVS1, PM2, PP1, PS4

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