ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4790G>A (p.Arg1597Gln)

gnomAD frequency: 0.00029  dbSNP: rs370079169
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000635141 SCV000756519 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-04-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004965620 SCV005552780 uncertain significance Inborn genetic diseases 2024-07-09 criteria provided, single submitter clinical testing The c.4790G>A (p.R1597Q) alteration is located in exon 27 (coding exon 26) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 4790, causing the arginine (R) at amino acid position 1597 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004735689 SCV005354731 likely benign CACNA1H-related disorder 2024-04-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.