ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.905del (p.Val302fs)

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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 RCV004520631 SCV005032543 pathogenic Maturity onset diabetes mellitus in young 2019-07-18 criteria provided, single submitter clinical testing The c.905delT pathogenic mutation, located in coding exon 8 of the GCK gene, results from a deletion of one nucleotide at nucleotide position 905, causing a translational frameshift with a predicted alternate stop codon (p.V302Gfs*51). 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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