ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.75_76del (p.Cys26fs)

gnomAD frequency: 0.00004  dbSNP: rs768832921
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000012728 SCV000247162 pathogenic Maple syrup urine disease type 2 2015-02-23 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626239 SCV000746889 pathogenic Maple syrup urine disease 2017-12-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000626239 SCV000752992 pathogenic Maple syrup urine disease 2023-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys26Trpfs*2) 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). This variant is present in population databases (rs768832921, gnomAD 0.03%). This premature translational stop signal has been observed in individuals with maple syrup urine disease (PMID: 8430702, 14517957, 16468966, 20639189, 28417071). ClinVar contains an entry for this variant (Variation ID: 11950). For these reasons, this variant has been classified as Pathogenic.
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV004566724 SCV000891578 pathogenic Maple syrup urine disease type 1A 2024-06-12 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000626239 SCV001193992 pathogenic Maple syrup urine disease 2019-12-24 criteria provided, single submitter clinical testing NM_001918.3(DBT):c.75_76delAT(C26Wfs*2) is classified as pathogenic in the context of maple syrup urine disease type II. Sources cited for classification include the following: PMID 8430702. Classification of NM_001918.3(DBT):c.75_76delAT(C26Wfs*2) is based on the following criteria: The variant causes a premature termination codon that is expected to be targeted by nonsense-mediated mRNA decay and is reported in individuals with the relevant phenotype. Please note: this variant was assessed in the context of healthy population screening.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000012728 SCV001448786 pathogenic Maple syrup urine disease type 2 2019-03-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000626239 SCV002018145 pathogenic Maple syrup urine disease 2021-08-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000626239 SCV002033196 pathogenic Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000626239 SCV002790945 pathogenic Maple syrup urine disease 2021-08-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV004566724 SCV004190844 pathogenic Maple syrup urine disease type 1A 2024-03-25 criteria provided, single submitter clinical testing
OMIM RCV000012728 SCV000032963 pathogenic Maple syrup urine disease type 2 1993-02-01 no assertion criteria provided literature only

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.