ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.811_824del (p.Asp271fs)

dbSNP: rs1554194690
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673322 SCV000798510 likely pathogenic Maple syrup urine disease 2018-03-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000673322 SCV003439500 pathogenic Maple syrup urine disease 2022-08-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp271Cysfs*25) in the BCKDHB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BCKDHB are known to be pathogenic (PMID: 16786533, 22593002). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 557213). This variant is also known as c.808_821del, p.Ser270_Leu274del. This premature translational stop signal has been observed in individual(s) with maple syrup urine disease (PMID: 17922217). This variant is not present in population databases (gnomAD no frequency).

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.