ClinVar Miner

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

dbSNP: 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 Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2020-03-06 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with a SCN2A-related disease. This variant is not present in population databases (ExAC no frequency). 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.

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