ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5781_5782delinsTG (p.Arg1927_Arg1928delinsSerGly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001221045 SCV001393067 likely pathogenic Early infantile epileptic encephalopathy 2019-08-06 criteria provided, single submitter clinical testing This variant, c.5781_5782delinsTG, is a complex sequence change that results in the deletion of 2 amino acids and insertion of 2 amino acids in the SCN1A protein (p.Arg1927_Arg1928delinsSerGly). This variant is reported as two separate entries in the ExAC population database (c.5781A>T, absent and c.5782C>G, 0.6%). This variant has been observed to be de novo in an individual affected with SCN1A-related condition (Invitae). 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. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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