ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2016+5G>A

gnomAD frequency: 0.00001  dbSNP: rs756399627
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822882 SCV000963705 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-11-20 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the SCN2A gene. It does not directly change the encoded amino acid sequence of the SCN2A protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs756399627, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SCN2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 664726). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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.

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