ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2443_2445del (p.Met815del)

dbSNP: rs1696886277
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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 RCV001299015 SCV001488091 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2020-01-13 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant, c.2443_2445del, results in the deletion of 1 amino acid(s) of the SCN1A protein (p.Met815del), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with SCN1A-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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