ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.609A>C (p.Leu203Phe) (rs751829413)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000211450 SCV000268449 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2015-02-20 criteria provided, single submitter clinical testing
Invitae RCV000211450 SCV001396956 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2019-05-10 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 203 of the ACADM protein (p.Leu203Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another ACADM variant in multiple individuals affected with MCAD deficiency (PMID: 16737882, Invitae). ClinVar contains an entry for this variant (Variation ID: 226065). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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