ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.277G>A (p.Glu93Lys)

gnomAD frequency: 0.00001  dbSNP: rs752612962
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240423 SCV001413364 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 93 of the ACADM protein (p.Glu93Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs752612962, ExAC 0.003%). This missense change has been observed in individual(s) with a positive newborn screening result for ACADM-related disease (Invitae). 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.
Natera, Inc. RCV001240423 SCV002092815 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-08-21 no assertion criteria provided clinical testing

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