ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.3577T>A (p.Leu1193Met)

dbSNP: rs1575748933
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001841061 SCV001356115 uncertain significance Cardiac arrhythmia 2023-07-12 criteria provided, single submitter clinical testing This missense variant replaces leucine with methionine at codon 1194 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). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with atrial fibrillation (PMID: 26746457). 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.
AiLife Diagnostics, AiLife Diagnostics RCV002223282 SCV002501732 uncertain significance not provided 2021-07-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491562 SCV002800925 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 2021-10-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001841061 SCV005428300 uncertain significance Cardiac arrhythmia 2024-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002223282 SCV005729256 uncertain significance not provided 2025-01-07 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1194 of the SCN5A protein (p.Leu1194Met). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with SCN5A-related conditions (PMID: 26746457). ClinVar contains an entry for this variant (Variation ID: 926368). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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