ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.808A>G (p.Met270Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003233403 SCV003932234 uncertain significance not provided 2023-01-19 criteria provided, single submitter clinical testing PM1_Supporting, PM2, PP2, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV005102471 SCV005792432 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2024-11-07 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 270 of the SCN1A protein (p.Met270Val). This variant is not present in population databases (gnomAD no frequency). 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: 2505226). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SCN1A protein function with a positive 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.

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