SCN5A P627L - GET-Evidence

Curation:
Currentness:

SCN5A P627L

(SCN5A Pro627Leu)


Short summary

Reported by ClinVar to cause disease (https://www.ncbi.nlm.nih.gov/clinvar/variation/201577/). The condition is unspecified in ClinVar, but other variants in this gene cause dominantly-inherited heart diseases, including Brugada syndrome, familial dilated cardiomyopathy, and Romano-Ward syndrom.

In ClinVar this variant is reported as “pathogenic” by GeneDx. However, it is classified as “uncertain significance” by the Stanford Center for Inherited Cardiovascular Disease. Neither ClinVar submission includes references to published literature. The frequency of this variant is extremely rare according to ExAC data (http://exac.broadinstitute.org/variant/3-38645213-G-A).

Variant evidence
Computational -
Functional -
Case/Control

Case/control evidence unknown

Familial

Familial evidence unknown

 
Clinical importance
Severity 4
Treatability 1
Penetrance 4
 

Impact

High clinical importance, Uncertain pathogenic

(The "high clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

dominant

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the SCN5A gene
    Dilated Cardiomyopathy
    Brugada Syndrome
    Long QT Syndrome 3
    LQT3-Related Romano Ward Syndrome
    Progressive Cardiac Conduction Disease
    Romano-Ward Syndrome
    SCN5A-Associated Dilated Cardiomyopathy
    SCN5A-Related Dilated Cardiomyopathy
    SCN5A-Related Disorders
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCN5A

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in