ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.-6_6delinsACCCCGAGTG (p.Met1fs)

dbSNP: rs875989865
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001241741 SCV001414781 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2022-10-11 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the ACADM mRNA. The next in-frame methionine is located at codon 87. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with medium chain acyl-CoA dehydrogenase deficiency (PMID: 23028790, 30675864). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 966945). This variant disrupts a region of the ACADM protein in which other variant(s) (p.Arg29Leu) have been determined to be pathogenic (PMID: 20434380; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001241741 SCV002023976 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2021-05-12 criteria provided, single submitter clinical testing

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