ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2563G>A (p.Ala855Thr)

dbSNP: rs1555225784
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626916 SCV000747619 uncertain significance Intellectual disability, moderate 2017-01-01 criteria provided, single submitter clinical testing
Invitae RCV002529798 SCV003316754 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-10-17 criteria provided, single submitter clinical testing 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 SCN8A protein function. ClinVar contains an entry for this variant (Variation ID: 523504). This variant has not been reported in the literature in individuals affected with SCN8A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 855 of the SCN8A protein (p.Ala855Thr).

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