ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu) (rs1555720743)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798273 SCV000937879 uncertain significance Brugada syndrome 5 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 116 of the SCN1B protein (p.Ser116Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN1B-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Laboratoire de Cytogenetique,Hospices Civils de Lyon RCV000760199 SCV000890029 uncertain significance Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Epileptic encephalopathy, early infantile, 52 criteria provided, single submitter clinical testing

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