ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.5360C>A (p.Thr1787Asn)

dbSNP: rs1131691830
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494231 SCV000582955 pathogenic not provided 2024-05-01 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This substitution is predicted to be within the C-terminal cytoplasmic domain; This variant is associated with the following publications: (PMID: 34979445, 36198807)
Labcorp Genetics (formerly Invitae), Labcorp RCV003588637 SCV004325266 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-10-10 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 1787 of the SCN8A protein (p.Thr1787Asn). This variant is not present in population databases (gnomAD no frequency). 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: 430208). 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. 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.
Center of Excellence for Medical Genomics, Chulalongkorn University RCV002281575 SCV002570055 likely pathogenic Seizures, benign familial infantile, 5 2002-09-08 no assertion criteria provided research

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