Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412440 | SCV000486312 | likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2016-05-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000412440 | SCV003483592 | pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2023-06-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370885). This variant has not been reported in the literature in individuals affected with ACADM-related conditions. This variant is present in population databases (rs749529577, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Leu146Trpfs*4) in the ACADM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACADM are known to be pathogenic (PMID: 16121256, 20434380). |
Baylor Genetics | RCV000412440 | SCV004217422 | pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2022-10-26 | criteria provided, single submitter | clinical testing |