ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.576A>G (p.Ile192Met)

dbSNP: rs1647482271
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206244 SCV001377542 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2019-09-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 192 of the ACADM protein (p.Ile192Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine. 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ACADM-related conditions. This variant is not present in population databases (ExAC no frequency).
Natera, Inc. RCV001206244 SCV002092837 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2021-03-23 no assertion criteria provided clinical testing

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