ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.766G>T (p.Glu256Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002400446 SCV002673126 pathogenic Maturity onset diabetes mellitus in young 2017-12-13 criteria provided, single submitter clinical testing The p.E256* pathogenic mutation (also known as c.766G>T), located in coding exon 7 of the GCK gene, results from a G to T substitution at nucleotide position 766. This changes the amino acid from a glutamic acid to a stop codon within coding exon 7. This mutation was identified in one maturity-onset diabetes of the young (MODY) family; however, specific clinical information was not provided (Osbak KK et al. Hum. Mutat., 2009 Nov;30:1512-26). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV003099711 SCV003439896 pathogenic not provided 2022-07-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Maturity onset diabetes of the young (PMID: 19790256). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu256*) in the GCK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GCK are known to be pathogenic (PMID: 7553875, 9867845, 14578306, 24323243, 25015100).

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