ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.830G>A (p.Trp277Ter)

dbSNP: rs1774369632
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001263853 SCV001441949 likely pathogenic Maple syrup urine disease 2019-01-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001263853 SCV003238129 pathogenic Maple syrup urine disease 2022-10-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 983850). This variant has not been reported in the literature in individuals affected with BCKDHB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp277*) 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).

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