ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.397G>A (p.Glu133Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706555 SCV000835612 uncertain significance Brugada syndrome 5 2020-01-24 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SCN1B-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 133 of the SCN1B protein (p.Glu133Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine.
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001004758 SCV001164238 uncertain significance Generalized epilepsy with febrile seizures plus, type 1 2015-02-15 criteria provided, single submitter clinical testing

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