ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.384-9A>G

gnomAD frequency: 0.00003  dbSNP: rs371926865
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002265114 SCV002546665 uncertain significance not provided 2022-01-10 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003095985 SCV003513063 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-07-02 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the SCN1A gene. It does not directly change the encoded amino acid sequence of the SCN1A protein. This variant is present in population databases (rs371926865, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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