ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2269G>C (p.Gly757Arg)

gnomAD frequency: 0.00031  dbSNP: rs200813987
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 RCV000895307 SCV001039340 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501497 SCV002810639 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-05-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002540133 SCV003740049 uncertain significance Inborn genetic diseases 2022-11-21 criteria provided, single submitter clinical testing The c.2269G>C (p.G757R) alteration is located in exon 10 (coding exon 9) of the CACNA1H gene. This alteration results from a G to C substitution at nucleotide position 2269, causing the glycine (G) at amino acid position 757 to be replaced by an arginine (R). 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.