ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met) (rs750901301)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055611 SCV001220011 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2020-07-08 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 841 of the SCN1A protein (p.Thr841Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs750901301, ExAC 0.009%). This variant has not been reported in the literature in individuals with SCN1A-related conditions. 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, 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.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001729785 SCV001976727 likely pathogenic Severe myoclonic epilepsy in infancy 2021-08-10 criteria provided, single submitter clinical testing PM1, PM5, PP2, PP3

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