Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.M858L
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SCN5A

NM_000335.5:p.M858L

Associated Papers

Clinical presentation and outcomes of patients with biallelic SCN5A variants: A systematic review.

Surget E et al.

Heart Rhythm O2, 2025

Genetic testing in children with Brugada syndrome: results from a large prospective registry.

Pannone L et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2023

An Adolescent Patient with Sick Sinus Syndrome Complicated by Hypothyroidism Carrying an SCN5A Variant.

Yamane H et al.

International Heart Journal, 2022

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.

Edwards JJ et al.

Jacc. Basic to Translational Science, 2020

32368696 (PubMed )
Supplement: mmc3.xlsx › Cases

Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature.

Robyns T et al.

Indian Pacing and Electrophysiology Journal, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."