ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002736209 SCV003018412 pathogenic Maple syrup urine disease 2022-09-14 criteria provided, single submitter clinical testing This variant is present in population databases (rs754613642, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Tyr169*) 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 has not been reported in the literature in individuals affected with BCKDHA-related conditions. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV002736209 SCV004215902 likely pathogenic Maple syrup urine disease 2023-05-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005019359 SCV005648300 likely pathogenic Maple syrup urine disease type 1A 2024-05-01 criteria provided, single submitter clinical testing

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