ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.854-2A>G

gnomAD frequency: 0.00001  dbSNP: rs760494152
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592741 SCV000706772 pathogenic not provided 2017-03-08 criteria provided, single submitter clinical testing
Invitae RCV001379040 SCV001576762 pathogenic Maple syrup urine disease 2023-10-28 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 6 of the BCKDHA gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BCKDHA are known to be pathogenic (PMID: 16786533, 22593002). This variant is present in population databases (rs760494152, gnomAD 0.003%). Disruption of this splice site has been observed in individual(s) with maple syrup urine disease (PMID: 31980395, 33300147; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 500713). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001379040 SCV002033450 pathogenic Maple syrup urine disease 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV001829666 SCV004215923 pathogenic Maple syrup urine disease type 1A 2023-12-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829666 SCV002088157 likely pathogenic Maple syrup urine disease type 1A 2021-09-08 no assertion criteria provided clinical testing

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