ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.641dup (p.Tyr214Ter)

dbSNP: rs2128821490
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272801 SCV002557026 pathogenic Maturity-onset diabetes of the young type 2 2020-11-05 criteria provided, single submitter clinical testing
Geisinger Clinic, Geisinger Health System RCV002272801 SCV002562186 pathogenic Maturity-onset diabetes of the young type 2 2022-08-02 criteria provided, single submitter research PVS1, PM2, PS4_Supporting, PP1_Strong, PP4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004017916 SCV004848492 likely pathogenic Maturity onset diabetes mellitus in young 2020-11-06 criteria provided, single submitter clinical testing The (c.638dupA) p.Tyr213Ter variant in GCK has not been reported in individuals with maturity-onset diabetes of the young (MODY) and was absent from large population studies. This single base duplication variant leads to a premature termination codon at position 213, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the GCK gene is an established disease mechanism in maturity-onset diabetes of the young. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic for autosomal dominant MODY. ACMG/AMP Criteria applied: PVS1, PM2.

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