ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2933T>C (p.Val978Ala)

gnomAD frequency: 0.00002  dbSNP: rs776860363
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 RCV001219513 SCV001391457 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-05-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 978 of the CACNA1H protein (p.Val978Ala). This variant is present in population databases (rs776860363, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. ClinVar contains an entry for this variant (Variation ID: 948289). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CACNA1H protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002480724 SCV002787347 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032364 SCV004915140 uncertain significance Inborn genetic diseases 2023-12-19 criteria provided, single submitter clinical testing The c.2933T>C (p.V978A) alteration is located in exon 14 (coding exon 13) of the CACNA1H gene. This alteration results from a T to C substitution at nucleotide position 2933, causing the valine (V) at amino acid position 978 to be replaced by an alanine (A). 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.