Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000527133 | SCV000633885 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2020-08-25 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 13 of the STXBP1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants 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). 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. This variant has been observed in individual(s) with STXBP1-related conditions (PMID: 30488659, Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 461286). This variant is not present in population databases (ExAC no frequency). |
Wu Jinyu Laboratory, |
RCV000721132 | SCV000844978 | pathogenic | Developmental and epileptic encephalopathy, 4 | no assertion criteria provided | clinical testing |