ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.216+5G>T

gnomAD frequency: 0.00003  dbSNP: rs528788578
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Total submissions: 3
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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, Revvity RCV001377676 SCV004238910 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2023-04-04 criteria provided, single submitter clinical testing

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