ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6245G>A (p.Arg2082Gln)

gnomAD frequency: 0.00004  dbSNP: rs772785163
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
Invitae RCV001929063 SCV002204332 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-04-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507590 SCV002815143 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-05-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003348634 SCV004067261 uncertain significance Inborn genetic diseases 2023-06-30 criteria provided, single submitter clinical testing The c.6245G>A (p.R2082Q) 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 6245, causing the arginine (R) at amino acid position 2082 to be replaced by a glutamine (Q). 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.