ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.845A>C (p.His282Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003448757 SCV004176448 uncertain significance Maple syrup urine disease 2023-03-01 criteria provided, single submitter clinical testing The missense c.845A>C(p.His282Pro) variant in BCKDHB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid His at position 282 is changed to a Pro changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.His282Pro in BCKDHB is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The variant is predicted as damaging by SIFT. For these reasons, this variant has been classified as Uncertain Significance.

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