ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.346T>G (p.Cys116Gly) (rs875989863)

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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 RCV000211478 SCV000268461 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2015-02-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758716 SCV000887492 uncertain significance not provided 2018-01-18 criteria provided, single submitter clinical testing
Invitae RCV000211478 SCV001399345 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2019-09-06 criteria provided, single submitter clinical testing This sequence change replaces cysteine with glycine at codon 116 of the ACADM protein (p.Cys116Gly). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with medium-chain acyl-coenzyme A dehydrogenase deficiency (PMID: 20434380). ClinVar contains an entry for this variant (Variation ID: 226076). 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 and their clinical significance is uncertain. This variant disrupts the p.Cys116 amino acid residue in ACADM. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9158144, 20567907, 19649258, 29285339). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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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