ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2388+11C>G

gnomAD frequency: 0.00001  dbSNP: rs866295388
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001926581 SCV002204532 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2021-01-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SCN2A-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 14 of the SCN2A gene. It does not directly change the encoded amino acid sequence of the SCN2A protein.

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