ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5977A>G (p.Ile1993Val)

gnomAD frequency: 0.00001  dbSNP: rs751750112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189029 SCV000242660 likely benign not specified 2016-01-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001206735 SCV001378057 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2024-05-02 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1993 of the SCN1A protein (p.Ile1993Val). This variant is present in population databases (rs751750112, gnomAD 0.002%). 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: 206887). 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.
Revvity Omics, Revvity RCV003137765 SCV003820705 uncertain significance not provided 2021-11-19 criteria provided, single submitter clinical testing

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