ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.1195del (p.Ser399fs)

dbSNP: rs2100779888
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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 RCV001949426 SCV002243242 pathogenic Maple syrup urine disease 2022-11-08 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.Pro411Leu) have been determined to be pathogenic (Invitae). 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: 1458115). This variant has not been reported in the literature in individuals affected with DBT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser399Profs*14) in the DBT gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 84 amino acid(s) of the DBT protein.

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