ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1477C>A (p.Leu493Met)

gnomAD frequency: 0.00004  dbSNP: rs376530064
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
Invitae RCV000705038 SCV000834017 likely benign Long QT syndrome 2024-01-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811454 SCV002049896 uncertain significance not provided 2021-01-12 criteria provided, single submitter clinical testing The CACNA1C c.1477C>A; p.Leu493Met variant (rs376530064), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 581264). This variant is found in the general population with an overall allele frequency of 0.004% (11/257970 alleles) in the Genome Aggregation Database. The leucine at codon 493 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, given the lack of clinical and functional data, the significance of the p.Leu493Met variant is uncertain at this time.
Ambry Genetics RCV002388338 SCV002699470 benign Cardiovascular phenotype 2022-01-06 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.