ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5662C>A (p.Pro1888Thr) (rs1553463814)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539025 SCV000639641 uncertain significance Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2017-07-21 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 1888 of the SCN2A protein (p.Pro1888Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a SCN2A-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 disruptive, 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 SCN2A 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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