ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.1420C>T (p.Pro474Ser)

dbSNP: rs1160066733
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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 RCV001915701 SCV002183035 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-08-04 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 not expected to disrupt SCN8A protein function. ClinVar contains an entry for this variant (Variation ID: 1406186). 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 proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 474 of the SCN8A protein (p.Pro474Ser).
Fulgent Genetics, Fulgent Genetics RCV002490235 SCV002796895 uncertain significance Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 2022-05-25 criteria provided, single submitter clinical testing

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