ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6838C>T (p.Pro2280Ser)

gnomAD frequency: 0.00002  dbSNP: rs760918600
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 RCV000796645 SCV000936166 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-08-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495050 SCV002778919 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534605 SCV003731983 uncertain significance Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing The c.6838C>T (p.P2280S) alteration is located in exon 35 (coding exon 34) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 6838, causing the proline (P) at amino acid position 2280 to be replaced by a serine (S). 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.