Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001007958 | SCV001167682 | likely pathogenic | not provided | 2019-02-14 | criteria provided, single submitter | clinical testing | The R525X variant in the INSR gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R525X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R525X as a likely pathogenic variant. |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV002291289 | SCV002583821 | likely pathogenic | Hyperinsulinism due to INSR deficiency | 2022-08-10 | criteria provided, single submitter | clinical testing | PVS1 PM2 |