ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.388-5G>A (rs759254037)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000498502 SCV000331059 uncertain significance not provided 2015-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000498502 SCV000589301 uncertain significance not provided 2020-01-22 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 21083904)
Counsyl RCV000665148 SCV000789217 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2017-01-19 criteria provided, single submitter clinical testing
Invitae RCV000665148 SCV001576249 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2020-09-11 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the ACADM gene. It does not directly change the encoded amino acid sequence of the ACADM protein. This variant is present in population databases (rs759254037, ExAC 0.01%). This variant has been observed in individuals with MCAD deficiency (PMID: 21083904, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 281016). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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