Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV001781148 | SCV002025233 | likely pathogenic | Developmental and epileptic encephalopathy, 43 | 2021-05-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004719173 | SCV005325394 | pathogenic | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect and show that the coupling junction uncouples during activation and causes gain of function (Hernandez et al., 2017); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28053010, 28488083, 31435640, 29162865, 34698933, 26544041) |