ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.488_489del (p.His163fs)

dbSNP: rs760861011
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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 RCV001223966 SCV001396137 pathogenic Maple syrup urine disease 2023-08-17 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: 951953). This variant has not been reported in the literature in individuals affected with DBT-related conditions. This variant is present in population databases (rs760861011, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.His163Profs*24) 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).

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