ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.368del (p.Pro123fs) (rs1085307058)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490444 SCV000267225 likely pathogenic Maple syrup urine disease 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000490444 SCV001585234 pathogenic Maple syrup urine disease 2020-03-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro123Hisfs*107) in the BCKDHB gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BCKDHB-related conditions. ClinVar contains an entry for this variant (Variation ID: 225303). Loss-of-function variants in BCKDHB are known to be pathogenic (PMID: 16786533, 22593002). For these reasons, this variant has been classified as Pathogenic.

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