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
Invitae RCV000211465 SCV000630284 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2020-10-08 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the ACADM gene. It does not directly change the encoded amino acid sequence of the ACADM protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs764942250, ExAC 0.009%). This variant has been observed in individual(s) with medium-chain acyl-coenzyme A dehydrogenase deficiency (PMID: 20434380). It has also been observed to segregate with disease in related individuals. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000211465 SCV000799576 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-04-27 criteria provided, single submitter clinical testing

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