ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2350C>G (p.Pro784Ala)

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 RCV003077778 SCV003462827 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2022-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003077777 SCV003574456 uncertain significance Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing The c.2350C>G (p.P784A) alteration is located in exon 17 (coding exon 17) of the CACNA1S gene. This alteration results from a C to G substitution at nucleotide position 2350, causing the proline (P) at amino acid position 784 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004009367 SCV004825395 uncertain significance Malignant hyperthermia, susceptibility to, 5 2023-11-20 criteria provided, single submitter clinical testing This missense variant replaces proline with alanine at codon 784 of the CACNA1S protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with CACNA1S-related disorders in the literature. This variant has been identified in 4/282640 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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.