ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.31-12T>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003065401 SCV003458364 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2022-06-28 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the ACADM gene. It does not directly change the encoded amino acid sequence of the ACADM protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ACADM-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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