ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter)

gnomAD frequency: 0.00001  dbSNP: rs374625613
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665755 SCV000789923 likely pathogenic Maple syrup urine disease 2017-10-04 criteria provided, single submitter clinical testing
Invitae RCV000665755 SCV001585660 pathogenic Maple syrup urine disease 2023-05-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 550878). This variant has not been reported in the literature in individuals affected with BCKDHA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln43*) 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).
Genome-Nilou Lab RCV000665755 SCV002033339 pathogenic Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV000665755 SCV004215933 pathogenic Maple syrup urine disease 2022-05-10 criteria provided, single submitter clinical testing

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