ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.211del (p.Lys70_Met71insTer)

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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 RCV005123140 SCV005739770 pathogenic Maple syrup urine disease 2024-02-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met71*) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BCKDHB-related conditions. For these reasons, this variant has been classified as Pathogenic.

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