Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2015 Jan 22:5:7953.
doi: 10.1038/srep07953.

Determining the pathogenicity of genetic variants associated with cardiac channelopathies

Oscar Campuzano  1 , Catarina Allegue  2 , Anna Fernandez  2 , Anna Iglesias  2 , Ramon Brugada  3
Affiliations

Determining the pathogenicity of genetic variants associated with cardiac channelopathies

Oscar Campuzano et al. Sci Rep. .

Abstract

Advancements in genetic screening have generated massive amounts of data on genetic variation; however, a lack of clear pathogenic stratification has left most variants classified as being of unknown significance. This is a critical limitation for translating genetic data into clinical practice. Genetic screening is currently recommended in the guidelines for diagnosis and treatment of cardiac channelopathies, which are major contributors to sudden cardiac death in young people. We propose to characterize the pathogenicity of genetic variants associated with cardiac channelopathies using a stratified scoring system. The development of this system was considered by using all of the tools currently available to define pathogenicity. The use of this scoring system could help clinicians to understand the limitations of genetic associations with a disease, and help them better define the role that genetics can have in their clinical routine.

PubMed Disclaimer

Figures

Figure 1
Figure 1. Scale classification workflow.
The proposed items should be analysed to classify the variation (gene, variation, family segregation, in vitro, in vivo, and in silico studies). MAF: Minor Allele Frequency.
See this image and copyright information in PMC

References

    1. Sharma S., Whyte G. & McKenna W. J. Sudden death from cardiovascular disease in young athletes: Fact or fiction? Br J Sports Med. 31, 269–276 (1997). - PMC - PubMed
    1. Arzamendi D. et al. Increase in sudden death from coronary artery disease in young adults. Am Heart J. 161, 574–580 (2011). - PubMed
    1. Pachon M. & Almendral J. Sudden death: Managing the patient who survives. Heart. 97, 1619–1625 (2011). - PubMed
    1. Raffan E. & Semple R. K. Next generation sequencing--implications for clinical practice. Br Med Bull. 99, 53–71 (2011). - PubMed
    1. Priori S. G. et al. Hrs/ehra/aphrs expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromesexpert consensus statement on inherited primary arrhythmia syndromes: Document endorsed by hrs, ehra, and aphrs in may 2013 and by accf, aha, paces, and aepc in june 2013. Heart Rhythm. 10, 1932–63 (2013). - PubMed

Publication types