ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.395C>G (p.Pro132Arg) (rs875989854)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000211545 SCV000268437 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2015-02-20 criteria provided, single submitter clinical testing
Counsyl RCV000211545 SCV000800702 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-05-10 criteria provided, single submitter clinical testing
Invitae RCV000211545 SCV000630285 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2017-03-23 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 132 of the ACADM protein (p.Pro132Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in a family affected with MCAD deficiency where is was shown to co-occur with the pathogenic c.985A>G variant (PMID: 16737882). ClinVar contains an entry for this variant (Variation ID: 226055). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that has been reported in an affected family and predicted to impact protein function. This evidence indicates that the variant is pathogenic, but additional clinical or functional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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