Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003441769 | SCV004169236 | pathogenic | not provided | 2023-04-15 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging gain of function effect as this variant results in the calcium channels remaining open longer (Scholl et al., 2015; Gurtler et al., 2020); 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: 35757409, 27729216, 35813615, 35139664, 32638069, 29229745, 33142317, 29642543, 27242667, 33900205, 33704440, 31217264, 29594118, 30964584, 29735637, 26445452, 27315758, 28974569, 32227660, 27485459, 31983310, 27445978, 28933792, 31695023, 27527004, 27258646, 33879608, 32785697, 25907736) |
Richard Lifton Laboratory, |
RCV000171134 | SCV000218508 | pathogenic | Primary aldosteronism | 2015-03-20 | no assertion criteria provided | research | |
OMIM | RCV000234982 | SCV000292329 | pathogenic | Hyperaldosteronism, familial, type IV | 2015-04-24 | no assertion criteria provided | literature only |