Total submissions: 3
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, |
RCV001377846 | SCV002092806 | likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2019-02-19 | no assertion criteria provided | clinical testing |