ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5723C>T (p.Ala1908Val)

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
Ambry Genetics RCV003191035 SCV003882387 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.5723C>T (p.A1908V) alteration is located in exon 33 (coding exon 32) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 5723, causing the alanine (A) at amino acid position 1908 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779649 SCV004583869 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-10-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021844 SCV005645154 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-01-08 criteria provided, single submitter clinical testing

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.