ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.1114dup (p.Ala372fs) (rs1057516278)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000410007 SCV000693954 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2016-05-19 criteria provided, single submitter clinical testing Variant summary: The ACADM c.1114dupG (p.Ala372Glyfs) variant results in a premature termination codon, predicted to cause a truncated or absent ACADM protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP). The variant of interest was reported in one affected newborn via publications. Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Pathogenic.
Invitae RCV000410007 SCV001417134 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2020-09-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala372Glyfs*11) in the ACADM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with medium-chain acyl-coenzyme A dehydrogenase deficiency (PMID: 23028790). This variant is also known as c.1114–1115insG in the literature. ClinVar contains an entry for this variant (Variation ID: 370160). Loss-of-function variants in ACADM are known to be pathogenic (PMID: 16121256, 20434380). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000410007 SCV000485403 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2015-12-07 no assertion criteria provided clinical testing

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