ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4338+1G>A

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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 RCV003068985 SCV003457091 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-11-01 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with clinical features of SCN1A-related conditions (PMID: 11359211, 19763161, 28202706). In at least one individual the variant was observed to be de novo. This sequence change affects a donor splice site in intron 22 of the SCN1A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). This variant is not present in population databases (gnomAD no frequency). This variant is also known as IVS22+1G>A. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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