ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.51+1G>T

dbSNP: rs398123669
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173266 SCV000224362 pathogenic not provided 2015-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001377582 SCV001574952 likely pathogenic Maple syrup urine disease 2023-07-25 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 1 of the DBT gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DBT are known to be pathogenic (PMID: 16579849, 16786533). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 94003). This variant has not been reported in the literature in individuals affected with DBT-related conditions. This variant is present in population databases (rs398123669, gnomAD no frequency).
Genome-Nilou Lab RCV001377582 SCV002033197 pathogenic Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005016361 SCV005650991 likely pathogenic Maple syrup urine disease type 2 2024-05-20 criteria provided, single submitter clinical testing

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.