ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.2018T>C (p.Leu673Pro)

dbSNP: rs199473141
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003539778 SCV000832213 uncertain significance not provided 2018-01-01 criteria provided, single submitter clinical testing 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. 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 C45"). This variant has been reported in an individual affected with long QT syndrome (PMID: 25904541). ClinVar contains an entry for this variant (Variation ID: 67705). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 673 of the SCN5A protein (p.Leu673Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust RCV000058472 SCV000089992 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported as associated with Long QT syndrome in the following publications (PMID:19716085). 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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