ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000770782 SCV000902247 likely pathogenic Generalized epilepsy with febrile seizures plus, type 2 2019-05-03 criteria provided, single submitter clinical testing Familial segregation
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001004769 SCV001164249 uncertain significance Severe myoclonic epilepsy in infancy 2018-04-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001216747 SCV001388559 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2019-04-16 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with SCN1A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with threonine at codon 1689 of the SCN1A protein (p.Met1689Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine.
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV001004769 SCV004171561 likely pathogenic Severe myoclonic epilepsy in infancy 2023-11-24 no assertion criteria provided clinical testing

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