Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Kasturba Medical College, |
RCV001533418 | SCV001747683 | uncertain significance | Developmental and epileptic encephalopathy, 4 | 2021-04-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001873783 | SCV002130169 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2022-12-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1177478). This variant has been observed in individual(s) with clinical features of autosomal dominant developmental and epileptic encephalopathy (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 15 of the STXBP1 gene. It does not directly change the encoded amino acid sequence of the STXBP1 protein. It affects a nucleotide within the consensus splice site. |