ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.984_986del (p.Glu328_Gly329delinsAsp)

dbSNP: rs2105874408
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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 RCV001378497 SCV001576074 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-07-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1067278). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SCN1A protein in which other variant(s) (p.Gly329Ala) have been determined to be pathogenic (PMID: 28084635). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has been observed in individual(s) with clinical features of SCN1A-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This variant, c.984_986del, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the SCN1A protein (p.Glu328_Gly329delinsAsp).

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