ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.51+1G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003445371 SCV004171972 uncertain significance Maple syrup urine disease 2023-01-24 criteria provided, single submitter clinical testing The invariant splice donor c.51+1G>C variant in DBT gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.51+1G>C variant is novel (not in any individuals) in both gnomAD Exomes and 1000 Genomes databases. This variant has not been reported to the ClinVar database. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV003445371 SCV004190870 likely pathogenic Maple syrup urine disease 2023-03-05 criteria provided, single submitter clinical testing

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