ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.1519G>C (p.Glu507Gln)

gnomAD frequency: 0.00002  dbSNP: rs777851383
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000636433 SCV000757872 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-12-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 507 of the SCN8A protein (p.Glu507Gln). This variant is present in population databases (rs777851383, gnomAD 0.003%). 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: 530531). 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.
GeneDx RCV001591417 SCV001825099 likely benign not provided 2018-09-19 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001526836 SCV001737508 uncertain significance Cognitive impairment with or without cerebellar ataxia 2021-01-15 no assertion criteria provided clinical testing

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