ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter)

gnomAD frequency: 0.00003  dbSNP: rs376456598
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409408 SCV000486118 likely pathogenic Maple syrup urine disease 2016-07-22 criteria provided, single submitter clinical testing
Invitae RCV000409408 SCV001578968 pathogenic Maple syrup urine disease 2023-11-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser46*) 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 present in population databases (rs376456598, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with BCKDHA-related conditions. ClinVar contains an entry for this variant (Variation ID: 370729). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000409408 SCV002033351 pathogenic Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV000409408 SCV004215899 pathogenic Maple syrup urine disease 2023-07-01 criteria provided, single submitter clinical testing

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