ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.264+5G>A (rs794726762)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201121 SCV000255818 pathogenic Severe myoclonic epilepsy in infancy 2015-01-21 criteria provided, single submitter clinical testing
Invitae RCV000692637 SCV000820470 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2018-02-13 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the SCN1A gene. It does not directly change the encoded amino acid sequence of the SCN1A protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in individuals affected with severe myoclonic epilepsy of infancy (PMID: 17054684, 25669891). ClinVar contains an entry for this variant (Variation ID: 217242). Nucleotide substitutions within 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, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197105 SCV001367741 likely pathogenic Familial hemiplegic migraine type 3 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP3.
Institute of Human Genetics, University of Leipzig Medical Center RCV000201121 SCV001428706 pathogenic Severe myoclonic epilepsy in infancy 2019-10-16 criteria provided, single submitter clinical testing

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