Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001377676 | SCV001575067 | likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2023-05-01 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Variants that disrupt 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. ClinVar contains an entry for this variant (Variation ID: 1066634). This variant has been observed in individual(s) with medium chain acyl-CoA dehydrogenase deficiency (PMID: 16291504; Invitae). This variant is present in population databases (rs528788578, gnomAD 0.02%). This sequence change falls in intron 3 of the ACADM gene. It does not directly change the encoded amino acid sequence of the ACADM protein. It affects a nucleotide within the consensus splice site. |
Baylor Genetics | RCV001377676 | SCV004212158 | likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2023-10-28 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001377676 | SCV004238910 | uncertain significance | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2023-04-04 | criteria provided, single submitter | clinical testing |