ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr) (rs1559101839)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693631 SCV000821506 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2018-06-27 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 1823 of the SCN1A protein (p.Met1823Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with generalized epilepsy with febrile seizures plus spectrum (PMID: 24679980). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001200252 SCV001371157 likely pathogenic not provided 2020-11-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253286 SCV001428932 pathogenic Severe myoclonic epilepsy in infancy 2017-11-03 criteria provided, single submitter clinical testing

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