ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4918C>T (p.Leu1640Phe)

dbSNP: rs1553520463
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516237 SCV000615041 uncertain significance not specified 2017-07-21 criteria provided, single submitter clinical testing
Invitae RCV002525078 SCV003351365 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-05-06 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1640 of the SCN1A protein (p.Leu1640Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 448256). 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. 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.

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