Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000182793 | SCV000235179 | uncertain significance | not provided | 2023-06-14 | criteria provided, single submitter | clinical testing | Identified in a family with CPVT that was referred for genetic testing at GeneDx and subsequently reported in published literature (Preininger et al., 2016); 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; Not located in one of the three hot-spot regions of the RYR2 gene, where the majority of pathogenic missense variants occur (Medeiros-Domingo et al., 2009); This variant is associated with the following publications: (PMID: 27491078, 29760739, 30205876, 19926015) |