ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.645C>G (p.Tyr215Ter)

dbSNP: rs144723656
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Total submissions: 3
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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 RCV000029901 SCV000052556 pathogenic Maturity-onset diabetes of the young type 2 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
GeneDx RCV000421286 SCV000515865 pathogenic not provided 2015-03-05 criteria provided, single submitter clinical testing The Y215X nonsense variant in the GCK gene has been reported previously in association with MODY2(Sagen et al., 2008). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y215X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret Y215X as a pathogenic variant.
Athena Diagnostics RCV000421286 SCV005620890 pathogenic not provided 2024-01-05 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has been identified in multiple unrelated individuals with MODY. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org)

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