ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.725C>G (p.Ser242Ter)

dbSNP: rs201559874
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
Counsyl RCV000409585 SCV000486138 likely pathogenic Maple syrup urine disease 2016-07-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV004567878 SCV004190854 pathogenic Maple syrup urine disease type 1A 2023-11-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409585 SCV004291958 pathogenic Maple syrup urine disease 2022-12-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370744). This variant has not been reported in the literature in individuals affected with DBT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser242*) in the DBT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DBT are known to be pathogenic (PMID: 16579849, 16786533).

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.