ClinVar Miner

Submissions for variant NM_001918.4(DBT):c.75_76del (p.Cys26fs) (rs768832921)

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Total submissions: 7
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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
Invitae RCV000626239 SCV000752992 pathogenic Maple syrup urine disease 2020-10-31 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. This variant is present in population databases (rs768832921, ExAC 0.01%). This variant has been reported in several individuals affected with maple syrup urine disease (PMID: 8430702, 14517957, 16468966, 28417071, 20639189). ClinVar contains an entry for this variant (Variation ID: 11950). Loss-of-function variants in DBT are known to be pathogenic (PMID: 16579849, 16786533). For these reasons, this variant has been classified as Pathogenic.
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000626239 SCV000891578 likely pathogenic Maple syrup urine disease 2017-12-30 criteria provided, single submitter clinical testing
Myriad Women's Health, 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
OMIM RCV000012728 SCV000032963 pathogenic Maple syrup urine disease type 2 1993-02-01 no assertion criteria provided literature only

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