ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.1343G>A (p.Trp448Ter)

dbSNP: rs749366506
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000672644 SCV004190871 pathogenic Maple syrup urine disease 2023-02-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000672644 SCV004398160 pathogenic Maple syrup urine disease 2022-12-10 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.Met477Arg) have been determined to be pathogenic (PMID: 20307994; 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: 556615). This variant has not been reported in the literature in individuals affected with DBT-related conditions. This variant is present in population databases (rs749366506, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Trp448*) in the DBT gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 35 amino acid(s) of the DBT protein.
Counsyl RCV000672644 SCV000797769 uncertain significance Maple syrup urine disease 2018-02-16 flagged submission clinical testing

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