ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.656del (p.Gln219fs)

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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 RCV002364444 SCV002664808 pathogenic Maturity onset diabetes mellitus in young 2018-12-22 criteria provided, single submitter clinical testing The c.656delA pathogenic mutation, located in coding exon 6 of the GCK gene, results from a deletion of one nucleotide at nucleotide position 656, causing a translational frameshift with a predicted alternate stop codon (p.Q219Rfs*6). 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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