ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.917T>C (p.Leu306Pro)

dbSNP: rs193922337
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029928 SCV000052583 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 RCV000992070 SCV001144042 uncertain significance not provided 2019-01-14 criteria provided, single submitter clinical testing
Geisinger Clinic, Geisinger Health System RCV000029928 SCV002562200 likely pathogenic Maturity-onset diabetes of the young type 2 2022-08-02 criteria provided, single submitter research PM2, PP3, PP1, PS4_Supporting, PM5_Supporting, PP4, PP2
Ambry Genetics RCV002444445 SCV002683272 uncertain significance Maturity onset diabetes mellitus in young 2021-02-17 criteria provided, single submitter clinical testing The p.L306P variant (also known as c.917T>C), located in coding exon 8 of the GCK gene, results from a T to C substitution at nucleotide position 917. The leucine at codon 306 is replaced by proline, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000992070 SCV003439930 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This missense change has been observed in individual(s) with maturity onset diabetes of the young (PMID: 25555642). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 306 of the GCK protein (p.Leu306Pro). ClinVar contains an entry for this variant (Variation ID: 36265).
Department of Clinical Genetics, Medical University of Lodz RCV000029928 SCV005419228 likely pathogenic Maturity-onset diabetes of the young type 2 2024-12-03 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.