ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.871A>T (p.Lys291Ter) (rs193922335)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521942 SCV000622011 pathogenic not provided 2017-10-30 criteria provided, single submitter clinical testing The K291X nonsense variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000029926 SCV000052581 pathogenic Maturity-onset diabetes of the young, type 2 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.

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