ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.241_242del (p.Thr80_Val81insTer)

dbSNP: rs2100834784
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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 RCV001900959 SCV002158715 pathogenic Maple syrup urine disease 2021-08-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val81*) 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). This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of maple syrup urine disease (PMID: 32812330). This variant is also known as c.241_242delGT. For these reasons, this variant has been classified as Pathogenic.

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