ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5309T>A (p.Ile1770Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003588453 SCV004293420 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-09-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 missense change has been observed in individual(s) with SCN1A-related epilepsy (PMID: 32090326, 34106054). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 1770 of the SCN1A protein (p.Ile1770Asn).

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