ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.340A>G (p.Ile114Val)

gnomAD frequency: 0.00002  dbSNP: rs527246057
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001372284 SCV001568908 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-12-30 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 114 of the SCN8A protein (p.Ile114Val). This variant is present in population databases (rs527246057, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with SCN8A-related conditions. ClinVar contains an entry for this variant (Variation ID: 309349). 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 SCN8A protein function with a negative predictive value of 95%. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
CeGaT Center for Human Genetics Tuebingen RCV003391105 SCV004132897 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing

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