ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.1184A>C (p.Lys395Thr) (rs776312173)

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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 RCV000211495 SCV000268487 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2015-02-20 criteria provided, single submitter clinical testing
Invitae RCV000211495 SCV001386960 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2019-04-30 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 395 of the ACADM protein (p.Lys395Thr). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual MCAD deficiency (Invitae). ClinVar contains an entry for this variant (Variation ID: 226094). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Lys395 amino acid residue in ACADM. Other variant(s) that disrupt this residue have been observed in individuals with ACADM-related conditions (PMID:22796001), which suggests that this may be a clinically significant amino acid residue. 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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