ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.946-2A>C (rs758753966)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255491 SCV000322379 pathogenic not provided 2016-08-30 criteria provided, single submitter clinical testing The c.946-2 A>C variant in the ACADM gene has been reported previously in association with medium chain acyl-CoA dehydrogenase (MCAD) deficiency (Waddell et al. 2006). The c.946-2 A>C variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Functional studies found that c.946-2 A>C causes abnormal gene splicing resulting in skipping of exon 11 (Bruun et al. 2013). In summary, we interpret c.946-2 A>C to be a pathogenic variant.
Counsyl RCV000665621 SCV000789771 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2017-02-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000255491 SCV001133292 pathogenic not provided 2018-12-07 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and found in general population data that is consistent with pathogenicity. Predicted to negatively affect a known splice site. Nucleotide conservation is uninformative.

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