ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.810_814del (p.Leu271fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230883 SCV003928820 pathogenic Monogenic diabetes 2023-04-27 criteria provided, single submitter clinical testing Variant summary: GCK c.810_814delGCTGG (p.Leu271ValfsX2) results in a premature termination codon, predicted to cause an absence of the protein due to nonsense mediated decay, a commonly known mechanism for disease. The variant was absent in 250518 control chromosomes. c.810_814delGCTGG has been reported in the literature in at-least one individual affected with Monogenic Diabetes/Maturity Onset Diabetes Of The Young 2 (example, Gloyn_2003 cited in Osbak_2009). The following publications have been ascertained in the context of this evaluation (PMID: 14517946, 19790256). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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