ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.295T>C (p.Trp99Arg)

dbSNP: rs1554335751
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518344 SCV000613420 pathogenic not provided 2016-09-23 criteria provided, single submitter clinical testing
GeneDx RCV000518344 SCV000617558 pathogenic not provided 2017-11-03 criteria provided, single submitter clinical testing The W99R variant in the GCK gene has been reported previously in a family with familial hypoglycemia (Gloyn et al., 2003). The W99R variant is not observed in large population cohorts (Lek et al., 2016). The W99R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Functional studies of W99R indicate that it leads to enhanced glucose binding (Gloyn et al., 2003; Heredia et al., 2006). We interpret W99R as a pathogenic variant.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003988850 SCV004805354 uncertain significance Maturity-onset diabetes of the young type 2 criteria provided, single submitter research

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