Submissions for variant NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn) (rs371243629)

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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000593278	SCV000703160	uncertain significance	not provided	2016-12-07	criteria provided, single submitter	clinical testing
Invitae	RCV000636263	SCV000757702	uncertain significance	Early infantile epileptic encephalopathy	2017-10-27	criteria provided, single submitter	clinical testing	This sequence change replaces lysine with asparagine at codon 1996 of the SCN1A protein (p.Lys1996Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN1A-related disease. This variant identified in the SCN1A gene is located in the cytoplasmic C-terminal region of the resulting protein (PMID: 25348405, 18804930), but it is unclear how this variant impacts the function of this protein. 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.
Fulgent Genetics,Fulgent Genetics	RCV000764281	SCV000895300	uncertain significance	Familial hemiplegic migraine type 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2	2018-10-31	criteria provided, single submitter	clinical testing

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