ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.445dup (p.Thr149fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002328413 SCV002635991 pathogenic Maturity onset diabetes mellitus in young 2016-10-20 criteria provided, single submitter clinical testing The c.445dupA pathogenic mutation, located in coding exon 4 of the GCK gene, results from a duplication of A at nucleotide position 445, causing a translational frameshift with a predicted alternate stop codon (p.T149Nfs*13). 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.

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