ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs)

dbSNP: rs1330793674
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673876 SCV000799129 likely pathogenic Maple syrup urine disease 2018-04-11 criteria provided, single submitter clinical testing
Invitae RCV000673876 SCV001581814 pathogenic Maple syrup urine disease 2020-12-06 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 557703). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His336Glnfs*2) 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 RCV000673876 SCV002033528 pathogenic Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV002469253 SCV002765283 pathogenic not provided 2022-06-16 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31980395)
Baylor Genetics RCV000673876 SCV004215921 likely pathogenic Maple syrup urine disease 2023-02-10 criteria provided, single submitter clinical testing

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