ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.954G>C (p.Gly318=)

gnomAD frequency: 0.00287  dbSNP: rs145764627
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Total submissions: 9
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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 RCV000029932 SCV000052587 likely benign Maturity-onset diabetes of the young type 2 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
PreventionGenetics, part of Exact Sciences RCV000250733 SCV000302770 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000250733 SCV000513128 benign not specified 2015-09-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000896007 SCV001040078 benign not provided 2024-01-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000250733 SCV001475134 benign not specified 2020-07-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000250733 SCV002069895 likely benign not specified 2021-01-04 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002326692 SCV002601605 benign Maturity onset diabetes mellitus in young criteria provided, single submitter research Potent mutations in GCK gene is associated with poor secretion of insulin. Its associated with milder forms of diabetes, which can be controlled by diet . However, there is no sufficient evidence to ascertain the significance of rs145764627 in MODY, yet.
Ambry Genetics RCV002326692 SCV002690751 benign Maturity onset diabetes mellitus in young 2016-10-27 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002504830 SCV002808972 likely benign Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 2022-04-29 criteria provided, single submitter clinical testing

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