ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.196+5G>A

dbSNP: rs398124568
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082729 SCV000114773 uncertain significance not provided 2015-03-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003522924 SCV004312993 uncertain significance Maple syrup urine disease 2023-11-07 criteria provided, single submitter clinical testing This sequence change falls in intron 1 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. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with maple syrup urine disease (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 96571). 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.

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