ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.1382C>A (p.Ser461Ter)

dbSNP: rs1553228626
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673281 SCV000798465 uncertain significance Maple syrup urine disease 2018-03-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000673281 SCV002236432 pathogenic Maple syrup urine disease 2021-11-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the DBT protein in which other variant(s) (p.Arg462Pro) have been determined to be pathogenic (PMID: 11112664, 26232051). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 557174). This premature translational stop signal has been observed in individual(s) with maple syrup urine disease (PMID: 30228974). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser461*) in the DBT gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 22 amino acid(s) of the DBT protein.

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