ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.941T>G (p.Leu314Arg)

dbSNP: rs1554334886
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Newborn Screening Laboratory, Hospital Nacional de Niños RCV002227425 SCV002506579 likely pathogenic Maturity-onset diabetes of the young type 2 criteria provided, single submitter clinical testing This is a missense variant located within exon 8 and generates a change from the aminoacid Leucine to Arginine in position 314. It is located in a mutational hot spot (PM1). It is not present in population databases (GnomAD exomes, GnomAD genomes) (PM2). It is a missense change at an amino acid residue where a different missense change determined to be pathogenic (c.941T>C) (PM5). Multiple lines of computational evidence support a deleterious effect on the gene (PP3). Missense variant in a gene that has a low rate of benign missense variation for which missense variants are a common mechanism of a disease (PP2).

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