ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5092G>A (p.Glu1698Lys)

gnomAD frequency: 0.00001  dbSNP: rs548487014
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001041410 SCV001205024 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-08-02 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SCN1A protein function. ClinVar contains an entry for this variant (Variation ID: 839613). This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. This variant is present in population databases (rs548487014, gnomAD 0.007%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1698 of the SCN1A protein (p.Glu1698Lys).
Fulgent Genetics, Fulgent Genetics RCV002481886 SCV002787495 uncertain significance Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 2022-01-16 criteria provided, single submitter clinical testing

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