ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.1029+1G>A

dbSNP: rs727504173
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090609 SCV001246235 pathogenic not provided 2018-05-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253063 SCV001428585 pathogenic Developmental and epileptic encephalopathy, 4 2017-09-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379641 SCV002691831 likely pathogenic Inborn genetic diseases 2018-01-24 criteria provided, single submitter clinical testing The c.1029+1G>A intronic variant results from a G to A substitution one nucleotide after coding exon 12 of the STXBP1 gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.