Total submissions: 3
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, |
RCV001030035 | SCV001190553 | pathogenic | Developmental and epileptic encephalopathy, 4 | 2019-05-10 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001030035 | SCV001949995 | likely pathogenic | Developmental and epileptic encephalopathy, 4 | 2021-07-28 | criteria provided, single submitter | clinical testing |