ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4734G>A (p.Leu1578=)

dbSNP: rs758734319
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703746 SCV000832660 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-01-04 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. ClinVar contains an entry for this variant (Variation ID: 580264). This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. This variant is present in population databases (rs758734319, gnomAD 0.003%). This sequence change affects codon 1578 of the SCN1A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SCN1A protein.

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