ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.274+5C>T

dbSNP: rs1770414545
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001241254 SCV001414260 uncertain significance Maple syrup urine disease 2021-09-01 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the BCKDHB gene. It does not directly change the encoded amino acid sequence of the BCKDHB protein. It affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BCKDHB-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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 available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001835096 SCV002077428 uncertain significance Maple syrup urine disease type 1B 2020-02-21 no assertion criteria provided clinical testing

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