ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.75del (p.Leu26fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003842914 SCV004641594 pathogenic Maple syrup urine disease 2023-02-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with maple syrup urine disease (PMID: 31980395). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu26Phefs*46) in the BCKDHB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BCKDHB are known to be pathogenic (PMID: 16786533, 22593002).
Fulgent Genetics, Fulgent Genetics RCV005038564 SCV005671883 pathogenic Maple syrup urine disease type 1B 2024-05-28 criteria provided, single submitter clinical testing

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