ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4645A>G (p.Met1549Val)

gnomAD frequency: 0.00001  dbSNP: rs786205050
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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, Yale University School of Medicine 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.