ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr) (rs562208324)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189015 SCV000242646 likely benign not provided 2019-06-20 criteria provided, single submitter clinical testing
Mendelics RCV000986869 SCV001136014 uncertain significance Severe myoclonic epilepsy in infancy 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001071764 SCV001237085 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2019-10-18 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 1894 of the SCN1A protein (p.Met1894Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs562208324, ExAC 0.05%). This variant has not been reported in the literature in individuals with SCN1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 206876). 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.

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