ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.449_452del (p.Thr150fs) (rs786204642)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000169427 SCV000268448 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2015-02-20 criteria provided, single submitter clinical testing
Invitae RCV000169427 SCV000630287 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2019-12-03 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 6 of the ACADM mRNA (c.449_452delCTGA), causing a frameshift at codon 150. This creates a premature translational stop signal (p.Thr150Argfs*4) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACADM are known to be pathogenic. This variant has been reported in compound heterozygous and homozygous individuals affected with MCAD deficiency (PMID: 19064330, 25503862, 15915086, 22796001). For these reasons, this variant has been classified as Pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723370 SCV000700258 pathogenic not provided 2017-03-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000169427 SCV001361312 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2019-09-09 criteria provided, single submitter clinical testing Variant summary: ACADM c.449_452delCTGA (p.Thr150ArgfsX4) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 2e-05 in 251336 control chromosomes (gnomAD). c.449_452delCTGA has been reported in the literature in compound heterozygous and homozygous individuals affected with Medium Chain Acyl-CoA Dehydrogenase Deficiency (Ensenauer_2005, Purevsuren_2009). These data indicate that the variant is very likely to be associated with disease. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Counsyl RCV000169427 SCV000220837 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-02-22 no assertion criteria provided clinical testing

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