ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.5891C>T (p.Ser1964Phe) (rs199473332)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000058814 SCV000545053 uncertain significance Brugada syndrome 2016-09-04 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 1964 of the SCN5A protein (p.Ser1964Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs199473332, ExAC 0.02%). This variant has been reported in an individual affected with Brugada syndrome (PMID: 21126620). ClinVar contains an entry for this variant (Variation ID: 68016). This variant identified in the SCN5A gene is located in the cytoplasmic C-terminal region of the resulting protein (PMID: 25348405), but it is unclear how this variant impacts the function of this protein. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV001191883 SCV001359806 uncertain significance Arrhythmia 2020-01-13 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058814 SCV000090334 not provided Brugada syndrome no assertion provided literature only This variant has been reported as associated with Brugada syndrome in the following publications (PMID:21126620). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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