ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.126T>G (p.Tyr42Ter)

dbSNP: rs794727262
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724185 SCV000227245 pathogenic not provided 2014-08-26 criteria provided, single submitter clinical testing
Counsyl RCV000175709 SCV000790871 likely pathogenic Maple syrup urine disease 2018-05-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000175709 SCV002033194 pathogenic Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000175709 SCV003249080 pathogenic Maple syrup urine disease 2024-10-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr42*) 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DBT-related conditions. ClinVar contains an entry for this variant (Variation ID: 195157). 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.

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