ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.825T>A (p.Asn275Lys)

dbSNP: rs2105889740
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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 RCV001957134 SCV002201719 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2021-08-26 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with atypical multifocal Dravet syndrome (PMID: 24328833). 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. 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 sequence change replaces asparagine with lysine at codon 275 of the SCN1A protein (p.Asn275Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine.

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