ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5782C>T (p.Arg1928Cys)

dbSNP: rs121917956
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079591 SCV000111473 uncertain significance not provided 2013-04-02 criteria provided, single submitter clinical testing
Invitae RCV001373680 SCV001570408 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-10-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1928 of the SCN1A protein (p.Arg1928Cys). This variant is present in population databases (rs121917956, gnomAD 0.006%). This missense change has been observed in individual(s) with Dravet syndrome (PMID: 35074891). This variant is also known as c.5749C>T (p.Arg1917Cys). ClinVar contains an entry for this variant (Variation ID: 93659). 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 with a negative predictive value of 95%. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000079591 SCV001713200 uncertain significance not provided 2019-05-20 criteria provided, single submitter clinical testing

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