ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.326-1G>T

dbSNP: rs1554776948
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543201 SCV000633898 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2021-03-05 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 of the STXBP1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with an STXBP1-related disease. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in STXBP1 are known to be pathogenic (PMID: 20887364, 26384463). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.
Center for Molecular Medicine, Children’s Hospital of Fudan University RCV001030035 SCV001190553 pathogenic Developmental and epileptic encephalopathy, 4 2019-05-10 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001030035 SCV001949995 likely pathogenic Developmental and epileptic encephalopathy, 4 2021-07-28 criteria provided, single submitter clinical testing

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