Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187645 | SCV000241242 | pathogenic | not provided | 2023-07-04 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect of M817V, including enhanced agonist potency, prolonged synaptic-like response time course, reduced sensitivity to endogenous negative modulators, and increased channel mean open time and single-channel open probability (Chen 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: 24903190, 25046240, 30544257, 34720871, 31366017, 30099049, 27839871, 35069111, 30217972, 28126851) |
Institute of Human Genetics, |
RCV001781551 | SCV002026155 | likely pathogenic | Landau-Kleffner syndrome | 2019-01-01 | criteria provided, single submitter | research |