ClinVar Miner

Submissions for variant NM_005881.4(BCKDK):c.847G>A (p.Ala283Thr) (rs760851100)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724088 SCV000224972 uncertain significance not provided 2014-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000724088 SCV000525104 uncertain significance not provided 2016-03-09 criteria provided, single submitter clinical testing The A283T variant in the BCKDK gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A283T variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A283T variant is a non-conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret A283T as a variant of uncertain significance.
Undiagnosed Diseases Network,NIH RCV000735204 SCV000863410 uncertain significance Branched-chain keto acid dehydrogenase kinase deficiency 2018-03-16 criteria provided, single submitter clinical testing

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