ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.388-3T>G (rs764942250)

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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 RCV000211465 SCV000268464 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2015-02-20 criteria provided, single submitter clinical testing
Counsyl RCV000211465 SCV000799576 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-04-27 criteria provided, single submitter clinical testing
Invitae RCV000211465 SCV000630284 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2016-09-02 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the ACADM mRNA. It does not directly change the encoded amino acid sequence of the ACADM protein. This variant is present in population databases (rs764942250, ExAC 0.009%). This variant has been reported in the literature in an individual affected with medium-chain acyl-coA dehydrogenase (MCAD) deficiency with markedly elevated hexanoylglycine (PMID: 20434380). It has also been found to segregate with disease in one large family (Invitae database). ClinVar contains an entry for this variant (Variation ID: 226079). Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a rare intronic change with uncertain impact on splicing. It has been reported in affected individuals and it has been found to segregate with disease in a large family. For these reasons, it has been classified as Likely Pathogenic.

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