ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4892T>C (p.Ile1631Thr)

dbSNP: rs1085307999
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV000851494 SCV000994549 likely pathogenic Autism; Seizure; Intellectual disability 2017-01-16 criteria provided, single submitter clinical testing
Invitae RCV001858503 SCV002162703 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2021-11-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 691254). This missense change has been observed in individual(s) with SCN8A-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1631 of the SCN8A protein (p.Ile1631Thr). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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