ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.540T>C (p.Pro180=)

gnomAD frequency: 0.00032  dbSNP: rs138245131
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610265 SCV000716124 likely benign not specified 2017-02-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000822871 SCV000963693 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2025-01-27 criteria provided, single submitter clinical testing This sequence change affects codon 180 of the CACNA1S mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CACNA1S protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs138245131, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with CACNA1S-related conditions. ClinVar contains an entry for this variant (Variation ID: 507513). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Color Diagnostics, LLC DBA Color Health RCV003517240 SCV004360410 likely benign Malignant hyperthermia, susceptibility to, 5 2023-05-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905583 SCV004721606 likely benign CACNA1S-related disorder 2021-12-20 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.