ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.762del (p.Glu254fs)

dbSNP: rs2100799447
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001946642 SCV002230902 pathogenic Maple syrup urine disease 2022-07-05 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DBT-related conditions. ClinVar contains an entry for this variant (Variation ID: 1455526). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu254Aspfs*3) 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).

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