ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.352dup (p.Arg118fs)

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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 RCV002654528 SCV002985403 pathogenic Maple syrup urine disease 2024-02-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg118Lysfs*4) 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. ClinVar contains an entry for this variant (Variation ID: 1947506). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004571206 SCV004210775 likely pathogenic Maple syrup urine disease type 1A 2024-03-07 criteria provided, single submitter clinical testing

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