ClinVar Miner

Submissions for variant NC_000001.10:g.(?_100680363)_(100684318_?)del

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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 RCV003107552 SCV003794537 pathogenic Maple syrup urine disease 2022-08-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with maple syrup urine disease (PMID: 31119508). This variant is a gross deletion of the genomic region encompassing exon(s) 5-7 of the DBT gene. This deletion is out-of-frame, and is expected to create a premature termination codon and 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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