ClinVar Miner

Submissions for variant NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter)

dbSNP: rs1303770209
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001263562 SCV001441652 likely pathogenic Maple syrup urine disease 2019-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001263562 SCV002132714 pathogenic Maple syrup urine disease 2020-12-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu238*) 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 is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BCKDHA-related conditions. ClinVar contains an entry for this variant (Variation ID: 983563).
Baylor Genetics RCV004570652 SCV004215905 likely pathogenic Maple syrup urine disease type 1A 2024-03-04 criteria provided, single submitter clinical testing

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