ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.568A>T (p.Lys190Ter)

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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 RCV002347463 SCV002648210 pathogenic Maturity onset diabetes mellitus in young 2021-07-28 criteria provided, single submitter clinical testing The p.K190* pathogenic mutation (also known as c.568A>T), located in coding exon 5 of the GCK gene, results from an A to T substitution at nucleotide position 568. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This changes the amino acid from a lysine to a stop codon within coding exon 5. 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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