ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.1028C>G (p.Ser343Ter)

dbSNP: rs774735002
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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 RCV001919750 SCV002165534 pathogenic Maple syrup urine disease 2021-03-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser343*) in the BCKDHA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BCKDHA are known to be pathogenic (PMID: 16786533, 22593002). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BCKDHA-related conditions. This variant is not present in population databases (ExAC no frequency).

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