ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3526G>A (p.Asp1176Asn)

gnomAD frequency: 0.00004  dbSNP: rs61294616
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001946191 SCV002213360 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004042113 SCV004915144 uncertain significance Inborn genetic diseases 2023-09-29 criteria provided, single submitter clinical testing The c.3526G>A (p.D1176N) alteration is located in exon 17 (coding exon 16) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 3526, causing the aspartic acid (D) at amino acid position 1176 to be replaced by an asparagine (N). 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.