ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.2192C>T (p.Thr731Ile) (rs199473150)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055114 SCV001219484 uncertain significance Brugada syndrome 2019-12-24 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 731 of the SCN5A protein (p.Thr731Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual referred for long QT syndrome testing (PMID: 19716085). ClinVar contains an entry for this variant (Variation ID: 67718). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058485 SCV000090005 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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