Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409585 | SCV000486138 | likely pathogenic | Maple syrup urine disease | 2016-07-22 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV004567878 | SCV004190854 | pathogenic | Maple syrup urine disease type 1A | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000409585 | SCV004291958 | pathogenic | Maple syrup urine disease | 2022-12-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370744). 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.Ser242*) 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). |