ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1028+1G>T

dbSNP: rs863225030
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201025 SCV000255811 pathogenic Severe myoclonic epilepsy in infancy 2015-06-15 criteria provided, single submitter clinical testing
Invitae RCV001242095 SCV001415161 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2021-01-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with severe myoclonic epilepsy of infancy (PMID: 17347258). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 217240). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 7 of the SCN1A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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