ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4078A>T (p.Thr1360Ser)

dbSNP: rs796053215
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002958411 SCV003278329 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-11-11 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 1360 of the SCN8A protein (p.Thr1360Ser). 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: 2065356). 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%. 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV003326166 SCV004032292 uncertain significance Developmental and epileptic encephalopathy, 13 2023-08-16 criteria provided, single submitter clinical testing Criteria applied: PM1,PM2_SUP,PP3

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