ClinVar Miner

Submissions for variant NM_005881.4(BCKDK):c.466C>T (p.Arg156Ter)

gnomAD frequency: 0.00001  dbSNP: rs397514573
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002243680 SCV002512919 pathogenic not provided 2021-10-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 22956686)
OMIM RCV000032959 SCV000056732 pathogenic Branched-chain keto acid dehydrogenase kinase deficiency 2012-10-19 no assertion criteria provided literature only

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