ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.861G>C (p.Leu287Phe)

dbSNP: rs568461410
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001957148 SCV002201736 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2020-11-18 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 not expected to disrupt SCN1A protein function. 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 leucine with phenylalanine at codon 287 of the SCN1A protein (p.Leu287Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine.

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