ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.86T>C (p.Ile29Thr)

dbSNP: rs773935383
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001760997 SCV001999778 uncertain significance not provided 2019-12-06 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This substitution is predicted to be within the N-terminal cytoplasmic domain
Labcorp Genetics (formerly Invitae), Labcorp RCV002540404 SCV003028029 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-05-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1310827). 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. 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 expected to disrupt SCN1A protein function. This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 29 of the SCN1A protein (p.Ile29Thr).

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