ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3338C>T (p.Pro1113Leu)

gnomAD frequency: 0.00004  dbSNP: rs753159318
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001880623 SCV002120445 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-08-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482482 SCV002790903 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003247059 SCV003941023 uncertain significance Inborn genetic diseases 2023-06-01 criteria provided, single submitter clinical testing The c.3338C>T (p.P1113L) alteration is located in exon 16 (coding exon 15) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 3338, causing the proline (P) at amino acid position 1113 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004693805 SCV005194078 uncertain significance not provided criteria provided, single submitter not provided

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.