ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054137 SCV001218436 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2019-12-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 413 of the ACADM protein (p.Arg413Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs139686925, ExAC 0.02%). This variant has been observed in individual(s) with MCAD deficiency (PMID: 20036593). 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 disrupts the p.Arg413 amino acid residue in ACADM. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 24718418, 20036593, 15832312). 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.
Illumina Clinical Services Laboratory,Illumina RCV001054137 SCV001255687 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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