ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.4444-2A>G (rs863225036)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201155 SCV000255830 pathogenic Severe myoclonic epilepsy in infancy 2013-03-27 criteria provided, single submitter clinical testing
Invitae RCV001205577 SCV001376839 uncertain significance Early infantile epileptic encephalopathy 2019-06-24 criteria provided, single submitter clinical testing This sequence change falls in intron 23 of the SCN1A gene. It does not directly change the encoded amino acid sequence of the SCN1A protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with borderline severe myoclonic epilepsy of infancy (PMID: 21425109). ClinVar contains an entry for this variant (Variation ID: 217247). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the effect of this variant on mRNA splicing is currently unknown. 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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