ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.1257C>A (p.Tyr419Ter) (rs753928772)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579124 SCV000680494 pathogenic not provided 2020-01-07 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 3 amino acids are lost; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 20036593)
Invitae RCV000633659 SCV000754916 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-09-12 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the ACADM gene (p.Tyr419*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 3 amino acids of the ACADM protein. This variant is present in population databases (rs753928772, ExAC 0.003%). This variant has not been reported in the literature in individuals with ACADM-related disease. ClinVar contains an entry for this variant (Variation ID: 488675). A different variant (c.1257C>G) giving rise to the same protein effect (p.Tyr419*) has been reported in an individual affected with medium-chain acyl-CoA dehydrogenase deficiency (PMID: 24966162). Experimental studies showed that c.1257C>G did not lead to NMD but does impair ACADM enzymatic activity. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000633659 SCV000798782 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-12-26 no assertion criteria provided clinical testing

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