ClinVar Miner

Submissions for variant NM_006514.3(SCN10A):c.4094C>A (p.Thr1365Asn) (rs748854017)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552485 SCV000637022 uncertain significance Brugada syndrome 2017-07-28 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 1365 of the SCN10A protein (p.Thr1365Asn). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and asparagine. This variant is present in population databases (rs748854017, ExAC 0.01%). This variant has not been reported in the literature in individuals with SCN10A-related disease. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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