ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.663del (p.Ala220_Tyr221insTer)

dbSNP: rs2122142757
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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 RCV001954865 SCV002204415 pathogenic Maple syrup urine disease 2022-01-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr221*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BCKDHA-related conditions. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001954865 SCV004215926 likely pathogenic Maple syrup urine disease 2023-01-28 criteria provided, single submitter clinical testing

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