ClinVar Miner

Submissions for variant NM_001918.5(DBT):c.1018-550A>G (rs796052135)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668558 SCV000793180 uncertain significance Maple syrup urine disease 2017-07-31 criteria provided, single submitter clinical testing
Invitae RCV000668558 SCV001400045 likely pathogenic Maple syrup urine disease 2020-09-09 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the DBT gene. It does not directly change the encoded amino acid sequence of the DBT protein. This variant has been observed to be homozygous in an individual affected with maple syrup urine disease (PMID: 9621512). ClinVar contains an entry for this variant (Variation ID: 11946). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 9621512). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000012724 SCV000032959 pathogenic Intermediate maple syrup urine disease type 2 1998-01-01 no assertion criteria provided literature only

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