ClinVar Miner

Submissions for variant NM_183050.4(BCKDHB):c.593A>T (p.Gln198Leu)

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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 RCV003340973 SCV004047884 uncertain significance Maple syrup urine disease criteria provided, single submitter clinical testing The missense c.593A>T (p.Gln198Leu) variant BCKDHB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Gln at position 198 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance.

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