SCN5A P627L

(SCN5A Pro627Leu)

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
		Case/control evidence unknown
Familial		Familial evidence unknown
		Familial evidence unknown

Clinical importance
Severity	4

Treatability	1

Penetrance	4

High clinical importance, Uncertain pathogenic

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

dominant

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

SCN5A P627L - GET-Evidence

SCN5A P627L

Allele frequency

Publications

Genomes

Other external references

Other in silico analyses

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