ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.614A>T (p.Asp205Val)

dbSNP: rs2128821509
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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 RCV002227423 SCV002506576 likely pathogenic Maturity-onset diabetes of the young type 2 criteria provided, single submitter clinical testing This is a missense variant located within exon 6 and generates a change from the aminoacid Aspartic acid to Valine in position 205. 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 bepathogenic (c.615C>G) (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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