ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.109C>A (p.Pro37Thr)

dbSNP: rs763906285
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231764 SCV001404296 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2019-10-25 criteria provided, single submitter clinical testing 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. This sequence change replaces proline with threonine at codon 37 of the SCN2A protein (p.Pro37Thr). 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 SCN2A-related conditions. 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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