ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.376-2A>G

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003465154 SCV004215893 likely pathogenic Maple syrup urine disease 2023-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003465154 SCV004261184 likely pathogenic Maple syrup urine disease 2024-01-18 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 3 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 (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with BCKDHA-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005021988 SCV005648295 likely pathogenic Maple syrup urine disease type 1A 2024-02-12 criteria provided, single submitter clinical testing

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