Variant "SCN5A:c.5296A>T(p.Met1766Leu)"
Search result: 1 record
Variant information
Gene:
Variant:
SCN5A:c.5296A>T(p.Met1766Leu) 
HGVS:
SO Term RefSeq
protein_coding NM_001099404.1:c.5296A>T(p.Met1766Leu)
protein_coding NM_198056.2:c.5296A>T(p.Met1766Leu)
protein_coding NM_000335.4:c.5293A>T(p.Met1765Leu)
protein_coding NM_001099405.1:c.5242A>T(p.Met1748Leu)
protein_coding NM_001160160.1:c.5197A>T(p.Met1733Leu)
protein_coding NM_001160161.1:c.5134A>T(p.Met1712Leu)
show all
dbSNP ID:
GWAS trait:
no data 
Modifier statisitcs
Record:
Disorder:
Reference:
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail:
  • Target disease:
    Arrhythmia (HP:0011675)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    From review article 
    Effect:
    SCN5A may also account for more severe phenotypic manifestations in conduction disease31 and Brugada syndrome,may exacerbate or alleviate the severity of the disease.
    Reference:
    Title:
    The primary arrhythmia syndromes: same mutation, different manifestations. Are we starting to understand why
    Species studied:
    Human
    Abstract:
    The discovery of pathogenic mutations primarily in genes encoding cardiac ion-channel proteins underlying the primary cardiac arrhythmia syndromes has had a remarkable impact on the management of these disorders, especially in patients with the long-QT syndrome. The availability of a genetic diagnostic test has added an important diagnostic tool, providing new opportunities for patient management such as early (presymptomatic) identification and treatment of patients at risk of developing fatal arrhythmias, risk stratification, and installation of gene-specific therapy. However, the fact that the identification of the causal mutation within a family allows diagnosis in other family members independently from the ECG features and arrhythmic manifestations quickly led to the recognition that extensive variability in clinical manifestations (e.g., extent of ECG abnormality and/or symptomatology) may be observed among family members carrying an identical mutation in a single ion channel gene. It is commonly held that this clinical variability stems from interactions between environmental and genetic modifiers with the particular pathogenic mutation. This Molecular Perspectives article reviews current knowledge on these modifiers of disease expression in the cardiac arrhythmia syndromes with particular reference to genetic modifiers.