Total submissions: 3
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 | |
Gene |
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, |
RCV003988850 | SCV004805354 | uncertain significance | Maturity-onset diabetes of the young type 2 | criteria provided, single submitter | research |