ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.730del (p.Tyr244fs)

dbSNP: rs1057516572
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411844 SCV000485888 likely pathogenic Maple syrup urine disease 2016-02-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000411844 SCV002143881 pathogenic Maple syrup urine disease 2023-02-21 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370540). This variant has not been reported in the literature in individuals affected with BCKDHB-related conditions. This sequence change creates a premature translational stop signal (p.Tyr244Thrfs*10) 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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