ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) (rs193922283)

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Total submissions: 3
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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 RCV000029863 SCV000052518 likely pathogenic Maturity-onset diabetes of the young, type 2 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Athena Diagnostics Inc RCV000517061 SCV000613413 likely pathogenic not provided 2020-02-04 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. Predicted to have a damaging effect on the protein. Assessment of experimental evidence suggests this variant results in abnormal protein function.
Fulgent Genetics,Fulgent Genetics RCV000763582 SCV000894421 likely 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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