ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del)

dbSNP: rs1553123869
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673916 SCV000799172 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000673916 SCV003231845 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2022-08-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ACADM protein in which other variant(s) (p.Asp181Gly) have been determined to be pathogenic (PMID: 23430840). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 557739). This variant has not been reported in the literature in individuals affected with ACADM-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.536_568del, results in the deletion of 11 amino acid(s) of the ACADM protein (p.Lys179_Lys189del), but otherwise preserves the integrity of the reading frame.
Baylor Genetics RCV000673916 SCV004217355 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2023-02-22 criteria provided, single submitter clinical testing

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