ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.217-2A>G

dbSNP: rs1647169738
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001377846 SCV001575283 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2023-05-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1066760). Disruption of this splice site has been observed in individuals with medium-chain acyl-CoA dehydrogenase deficiency (PMID: 15171999; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 3 of the ACADM gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ACADM are known to be pathogenic (PMID: 16121256, 20434380).
Baylor Genetics RCV001377846 SCV004216418 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2023-09-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001377846 SCV002092806 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2019-02-19 no assertion criteria provided clinical testing

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