ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.1220+678G>A (rs386834264)

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
OMIM RCV000056307 SCV000087476 pathogenic Primary aldosteronism, seizures, and neurologic abnormalities 2013-09-01 no assertion criteria provided literature only
Richard Lifton Laboratory, Yale University School of Medicine RCV000122469 SCV000154977 probable-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Division of Human Genetics,Children's Hospital of Philadelphia RCV000056307 SCV000238465 likely pathogenic Primary aldosteronism, seizures, and neurologic abnormalities 2015-01-14 no assertion criteria provided research The variant (c.1208G>A) is likely pathogenic because it was previously reported as a de novo alteration in a patient with primary aldosteronism, seizures, and global developmental delays (Scholl et al. 2013, PMID: 23913001). Electrophysiological study of this variant showed that it was comparable to a different mutation at amino acid position 403 (p.Gly403Arg) found in an adrenal aldosterone-producing adenoma that is activated at less depolarizing potentials and impairs the inactivation of the wildtype allele (Scholl et al. 2013, PMID: 23913001). This variant does not occur in ExAC 0.3 even though this genomic region is well-covered.

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.