ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.442G>T (p.Glu148Ter)

dbSNP: rs1570820579
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986389 SCV001135382 likely pathogenic Maple syrup urine disease 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000986389 SCV003285950 pathogenic Maple syrup urine disease 2022-03-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 801529). This premature translational stop signal has been observed in individual(s) with clinical features of maple syrup urine disease (PMID: 33131499). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu148*) 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000986389 SCV004050171 likely pathogenic Maple syrup urine disease 2023-04-11 criteria provided, single submitter clinical testing

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