ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.1359+5G>A

dbSNP: rs2131513670
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001533418 SCV001747683 uncertain significance Developmental and epileptic encephalopathy, 4 2021-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp 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.

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