ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del) (rs875989857)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000211510 SCV000268445 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2015-02-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000313722 SCV000330908 uncertain significance not provided 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000211510 SCV001578471 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2020-08-30 criteria provided, single submitter clinical testing This variant, c.430_432del, results in the deletion of 1 amino acid(s) of the ACADM protein (p.Lys144del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs756277519, ExAC 0.002%). This variant has been observed in individual(s) with MCAD deficiency (PMID: 21083904, 31012112, 23028790, 20434380). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000313722 SCV001817954 likely pathogenic not provided 2020-02-13 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; In-frame deletion of 1 amino acid in a non-repeat region; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31012112, 20434380, 21083904, 23028790)
Counsyl RCV000211510 SCV001132317 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2017-03-07 no assertion criteria provided clinical testing

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