ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.881G>C (p.Arg294Thr) (rs779759347)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000211542 SCV000268460 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2015-02-20 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000211542 SCV000894143 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000421774 SCV000521112 likely pathogenic not provided 2016-09-29 criteria provided, single submitter clinical testing The R294T missense variant in the ACADM gene has been reported in a patient with MCAD deficiency who also harbored the common pathogenic K329E variant on the opposite ACADM allele (in trans) (McKinney et al. 2004). R294T 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 R294T variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, we interpret the R294T variant to be likely pathogenic.

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