ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.3718G>C (p.Glu1240Gln) (rs199473211)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000058593 SCV000545034 uncertain significance Brugada syndrome 2019-03-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 1240 of the SCN5A protein (p.Glu1240Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is present in population databases (rs199473211, ExAC 0.007%). This variant has been reported in an individual affected with Brugada syndrome (PMID: 11901046). ClinVar contains an entry for this variant (Variation ID: 67818). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. 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.
Color RCV000772089 SCV000905122 uncertain significance Arrhythmia 2020-01-13 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV001256851 SCV001433339 uncertain significance not provided 2019-07-10 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058593 SCV000090113 not provided Brugada syndrome no assertion provided literature only This variant has been reported as associated with Brugada syndrome in the following publications (PMID:11901046). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678843 SCV000805032 likely pathogenic not specified 2016-04-18 no assertion criteria provided clinical testing

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