ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.5086T>C (p.Phe1696Leu)

dbSNP: rs2125826544
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001842125 SCV001735591 uncertain significance Cardiac arrhythmia 2023-09-22 criteria provided, single submitter clinical testing This missense variant replaces phenylalanine with leucine at codon 1697 of the SCN5A protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). This variant is found within a highly conserved transmembrane pore segment (a.a. 1524-1772). Rare non-truncating variants in this region have been shown to be significantly overrepresented in individuals with Brugada syndrome (PMID: 32893267). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with Brugada syndrome (PMID: 33221895) and an individual with fever-induced Brugada syndrome (PMID: 36516610). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002501853 SCV002775880 uncertain significance Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10 2021-07-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001842125 SCV004837510 uncertain significance Cardiac arrhythmia 2023-10-06 criteria provided, single submitter clinical testing This missense variant replaces phenylalanine with leucine at codon 1697 of the SCN5A protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). This variant is found within a highly conserved transmembrane pore segment (a.a. 1524-1772). Rare non-truncating variants in this region have been shown to be significantly overrepresented in individuals with Brugada syndrome (PMID: 32893267). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with Brugada syndrome (PMID: 33221895) and an individual with fever-induced Brugada syndrome (PMID: 36516610). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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