ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6385G>A (p.Glu2129Lys)

gnomAD frequency: 0.00007  dbSNP: rs369185359
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001208736 SCV001380141 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-10-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504246 SCV002815975 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033741 SCV004914959 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.6385G>A (p.E2129K) alteration is located in exon 35 (coding exon 34) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 6385, causing the glutamic acid (E) at amino acid position 2129 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.