ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.796_797delinsT (p.Asn266fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003636141 SCV004379068 pathogenic Maple syrup urine disease 2023-02-11 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: 947456). This variant has not been reported in the literature in individuals affected with BCKDHA-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Asn266Serfs*64) 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).

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