ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.87+1G>A

dbSNP: rs796053350
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189593 SCV000243236 pathogenic not provided 2023-01-31 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29655203)
Eurofins Ntd Llc (ga) RCV000189593 SCV000707033 likely pathogenic not provided 2017-04-24 criteria provided, single submitter clinical testing
Invitae RCV002517020 SCV003483991 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-08-10 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 207412). Disruption of this splice site has been observed in individual(s) with STXBP1-related conditions (PMID: 29655203). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 2 of the STXBP1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in STXBP1 are known to be pathogenic (PMID: 20887364, 26384463).

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