ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.281_291del (p.Phe94fs)

dbSNP: rs1380402024
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664711 SCV000788715 likely pathogenic Maple syrup urine disease 2016-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000664711 SCV002168210 pathogenic Maple syrup urine disease 2024-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe94Cysfs*8) 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). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with BCKDHB-related conditions. ClinVar contains an entry for this variant (Variation ID: 550081). For these reasons, this variant has been classified as Pathogenic.

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