ClinVar Miner

Submissions for variant NM_000162.3(GCK):c.76C>T (p.Gln26Ter) (rs193922329)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000255007 SCV000343033 pathogenic not provided 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000255007 SCV000322349 pathogenic not provided 2016-02-25 criteria provided, single submitter clinical testing The Q26X pathogenic variant in the GCK gene has been reported previously in association withMODY in multiple unrelated families (Costantini et al., 2015; Massa et al., 2001). This variant ispredicted to cause loss of normal protein function either through protein truncation or nonsensemediatedmRNA decay. The Q26X variant was not observed in approximately 6500 individuals ofEuropean and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is nota common benign variant in these populations. We interpret Q26X as a pathogenic variant.
Integrated Genetics/Laboratory Corporation of America RCV000029919 SCV000052574 likely pathogenic Maturity-onset diabetes of the young, type 2 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.

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