ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.37+1G>A

dbSNP: rs2132275717
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001953769 SCV002246364 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2020-12-20 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 1 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). This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with epileptic encephalopathy with cerebellar atrophy (PMID: 26993267). In at least one individual the variant was observed to be de novo. 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.
GeneDx RCV003225210 SCV003921281 pathogenic not provided 2022-10-24 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: 26993267)

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