ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.809A>C (p.Asn270Thr)

gnomAD frequency: 0.00036  dbSNP: rs200520956
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 RCV000540258 SCV000632243 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527714 SCV003678919 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The c.809A>C (p.N270T) alteration is located in exon 7 (coding exon 6) of the CACNA1H gene. This alteration results from a A to C substitution at nucleotide position 809, causing the asparagine (N) at amino acid position 270 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003409781 SCV004113276 uncertain significance CACNA1H-related condition 2023-04-24 criteria provided, single submitter clinical testing The CACNA1H c.809A>C variant is predicted to result in the amino acid substitution p.Asn270Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.068% of alleles in individuals of European (Non-Finnish) descent in gnomAD (https://gnomad.broadinstitute.org/variant/chr16-1250261-A-C). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.