ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1323_1328del (p.Ala442_Glu443del)

dbSNP: rs1697886499
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001171718 SCV001334548 uncertain significance not provided 2020-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001873585 SCV002221389 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2024-10-10 criteria provided, single submitter clinical testing This variant, c.1323_1328del, results in the deletion of 2 amino acid(s) of the SCN1A protein (p.Ala442_Glu443del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 916180). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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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