ClinVar Miner

Submissions for variant NM_006514.3(SCN10A):c.5866C>A (p.Pro1956Thr) (rs748441157)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531139 SCV000637040 uncertain significance Brugada syndrome 2017-06-13 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 1956 of the SCN10A protein (p.Pro1956Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine. This variant is present in population databases (rs748441157, ExAC 0.01%). This variant has not been reported in the literature in individuals with an SCN10A-related disease. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on SCN10A function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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