ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter) (rs754833969)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986334 SCV001135307 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000986334 SCV001157910 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-09-24 criteria provided, single submitter clinical testing The ACADM c.201T>A; p.Tyr67Ter variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, other downstream nonsense variants have been reported in individuals with medium chain acyl-CoA dehydrogenase deficiency and are considered pathogenic (Andresen 1997, Maier 2005, McKinney 2004). Based on available information, the p.Tyr67Ter variant is considered to be likely pathogenic. References: Andresen BS et al. The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? Hum Mol Genet. 1997 May;6(5):695-707. Maier EM et al. Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Hum Mutat. 2005 May;25(5):443-52. McKinney JT et al. Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene. Mol Genet Metab. 2004 Jun;82(2):112-20.

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