ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter)

gnomAD frequency: 0.00001  dbSNP: rs374625613
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
Counsyl RCV000665755 SCV000789923 likely pathogenic Maple syrup urine disease 2017-10-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665755 SCV001585660 pathogenic Maple syrup urine disease 2024-02-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln43*) in the BCKDHA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BCKDHA are known to be pathogenic (PMID: 16786533, 22593002). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BCKDHA-related conditions. ClinVar contains an entry for this variant (Variation ID: 550878). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000665755 SCV002033339 pathogenic Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV000665755 SCV004215933 pathogenic Maple syrup urine disease 2022-05-10 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.