ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.910_919del (p.Lys304fs)

dbSNP: rs2100797119
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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 RCV001384866 SCV001584516 pathogenic Maple syrup urine disease 2020-09-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DBT are known to be pathogenic (PMID: 16579849, 16786533). This variant has not been reported in the literature in individuals with DBT-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys304Leufs*6) in the DBT gene. It is expected to result in an absent or disrupted protein product.

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