ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2589+7A>G

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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 RCV002664266 SCV003524799 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-06-16 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the SCN1A gene. It does not directly change the encoded amino acid sequence of the SCN1A protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with SCN1A-related conditions (PMID: 23195492). In at least one individual the variant was observed to be de novo. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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